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Volume contents, author index and key word index for volume 5
Volume Contents Volume 5
Number I
V Dubowitz
1
Commentary from the Editor
3
Chaos in the classification of SMA: a possible resolution
Annotation
V Dubowitz
Research papers
Absence of mutations in the Mn superoxide dismutase or cstalese genes in familial amyotrophic lateral sclerosis
J S Parboosingh, G A Rouleau, V Meninger, D McKenna-Yasek, R H Brown Jr and D A Figlewicz B Fontaine, C-S Rime, J Hazan, A DOrr, G Stevanin, C Penet, J Reboul, Y Agid, 0 Lyon-Caen, N Baumann, J Weissenbach and A Brice
11
Exclusion of the candidate locus FSP1 in six families with late-onset autocomel dominant spastic paraplegia
S Rudnik-Sch6neborn, B Wirth, D R6hrig, H Saule and K Zerres
19
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration
V Dubowitz, R J Daniels and K E Davies
25
Olivopontocerebellar hypoplesie with anterior horn cell Involvement (SMA) does not localize to chromosome 5q
P J H Jongen, H J ter Laak and A M Stadhouders
31
Rimmed besophilic vacuoles and filamentous inclusions in neuromuscular disorders
E K Bjornskov, M R Carry, F H Katz, J Lefkowitz and S P Ringel
39
Diabetic muscle infarction: a new perspective on pathogenesis and management
V M Kazakov and T M Kovalenko
47
Experimental thyrotoxic myopathy: radioautography of protein synthesis in skeletal muscle end motor neurons of spinel cord
N Ohkoshi, T Yoshizawa, 53 H Mizusawa, S Shoji, M Toyama, K lida, Y Sugishita, K Hamano, A Takagi, K Goto and K Arahata
Malignant hyperthermia in a patient with Bocker muscular dystrophy: dystrophin analysis and caffeine contracture study
IX
P R J Barnes, D J Kanabar, L Brueton, J Newsom-Davis, S M Huson, N P Mann and D Hilton-Jones
59
Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother
J Philpot, F Muntoni, S Skellett and V Dubowitz
67
Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?
K M D Bushby
71
Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on limb-girdle dystrophies
Meeting Report J M Schr6der, K V Toyka and H-P Hartung
75
11th meeting of the peripheral nerve study group (PNSG)
79
Erratum
Workshop Report
Neuromuscular Disorders: Gene Location Mitochondrial
I IX
Encephalomyopathies: Gene Mutation
Volume 5
Number 2
Research papers R E Bittner, S Shorny, 81 R Ferlings, W Sperl, W Kress, C R M(Jller, M Cremer, J J L6ger and T Volt
Sercolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-raleted protein in two DMD patients with large deletions of the dystrophin gene
C Wallgren-Pettersson, 93 B Jasani, G R Newman, G E Morris, S Jones, S Singhrao, A Clarke, I Virtanen, C Holmberg and J Rapola
Alpha-actinin in nemaline bodies in congenital nemaline myopethy: immunological confirmation by light and electron microscopy
F Pasquini, C Guerin, D Blake, K Davies, G Karpati and P Holland
105
The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeiatsl muscle satellite ceils
P A laizzo, S Quasthoff and F Lehmann-Horn
115
Differential diagnosis of periodic paralysis aided by in vitro myography
G Islander, K-G Henriksson and E Ranklev-Twetman
125
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed
J M Land, S Mistry, M Squier, P Hope, I. Ghadiminejad, M Orford and D Saggerson
129
Neonatal carnitine palmltoyltransferese-2 deficiency: a case presenting with myopathy
A Genge, G Karpati, D Arnold E A Shoubridge and S Carpenter
139
Familial myopathy with conspicuous depletion of mltochondria in muscle fibers: a morphologically distinct disease
I Hausmanowa-Petrusewicz, M Blaszczyk and S Jablo(lska
145
Coexistence of scleromyositis associated with PMSCL antibody and myasthenia
N Murakami, Y Goto, M Itoh, Y Katsumi, T Wada, E Ozawa and I Nonaka
149
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy
G Novelli, M Gennarelli, E Menegazzo, C Angelini and B Dallapiccola
157
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n >700 repeats
Workshop Report H H Goebel and M Fardeau
161
Desmin in myology
Book Reviews
167
Neuromuscular Disorders: Gene Location Mitochondria/ Encephalomyopathies: Gene Mutation
Volume 5
v
Number 3
Research papers J E Clague, N Roberts, H Gibson and R H T Edwards
171
Muscle imaging in health and disease
U Slawir~ska, R Navarrete, S Kasicki and G Vrbovd
179
Motor activity patterns in rat soleus muscle after neonatal partial denervation
M de Fdtima Torres, M do Rosdrio Almeida and M Jo~o Saraiva
187
1-rR exon scanning in peripheral neuropathies
M Lindahl, E Bickman, K G Henriksson, J R Gorospe and E P Hoffman
193
Phospholipese A= activity in dystrophinopathles
K Goto, J H Lee, C Matsuda, K Hirabayashi, T Kojo, A Nakamura, Y Mitsunaga T Furukawa, K Sahashi and K Arahata
201
DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations
Xl
P M Matthews, D Benjamin, I van Bakel, M V Squier, L V B Nicholson, C Sewry, P R J Barnes, J Hopkin, R Brown, D Hilton-Jones, Y Boyd, G Karpati, G K Brown and I W Craig
209
Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers
S Ranta, H Pihko, P Santavuori, E Tahvanainen and A de la Chapalle
221
MusclHye-brain disease and Fukuyama type congenital muscular dystrophy are not alialic
J Philpot, H Topaloglu, J Pennock and V Dubowitz
227
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy
E Biickman and K G Henriksson
233
Low-dose prednisolone treatment in Duchenne and Beeker muscular dystrophy
T Grimm
243
Peter Emil Becker--a short biography on the occasion of his 85th birthday
Workshop Reports H Somer
249
25th ENMC workshop on distal myopathies
V Dubowitz
253
27th ENMC worskhop on congenital muscular dystrophy
Book Review
259
Announcement
260
ENMC News
261
Historical Vignette
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopath ies: Gene Mutation
Volume 5
I V
Number 4
Research Papers S Tsujino, S Shanske, J E Carroll, R L Sabina and S DiMauro P F M van der Ven, P H K Jap, P G Barth, R C A Sengers, F C S Ramaekers and A M Stadhouders
263
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
267
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro
Xll
H Reichmann, B Schalke, P Seibel, M Naumann and and K Toyka
277
Sarcoid myopathy end mitochondrlel respiratory chain defects: clinicopothological, biochemical and molecular biological analyses
P Saunier, D Chretien, 285 C Wood, A R6tig, J-P Bonnefont, J-M Saudubray, D Rabier, A Munnich and P Rustin
Cyteohrome c oxidese doficlenoy presenting as recurrent neonatal myoglobinuria
L Morandi, P Bernasconi, M Gebbia, M Mora, F Crosti, R Mantegazza and F Cornelio
291
Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer
V Ionasescu, Ch Searby, R Ionasescu and W Meschino
297
New point mutations and deletions of the connexin 32 gsne in X-linked Cheroot-Made-Tooth neuropathy
J Philpot, C Sewn/, J Pennock 301 and V Dubowitz
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle
C A Sewn/, J Philpot, D Mahony, L A Wilson, F Muntoni and V Dubowitz
307
Expression of laminin subunits in congenital muscular dystrophy
C J Caldwell, M Swash, J D van der Walt and J F Geddes
317
Focal myositis: a clinicopathological study
G T Carter, M A Wineinger, 323 S A Welsh, S J Horasek, R T Abresch and W M Fowler Jr Workshop Reports T Munsat and K Davies
Effect of voluntary wheel-running exercise on muscles of the mdx mouse
333
SMA Consortium (clinical end plenary meetings)
K M D Bushby and J S Beckmann
337
30th and 31st ENMC workshops on the limbgirdle muscular dystrophies--proposal for s new nomenclature
J Poulton
345
28th ENMC workshop on mitochondrial diseases
Book Reviews
347
Letter to the Editor
351
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopathies: Gene Mutation
I
V
XIII
Volume 5
Number 5
Research Papers P C Sapp, D R Rosen, B A Hosler, J Esteban, D McKenna-Yasek, J P O'Regan, H R Horvitz and R H Brown Jr
353
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
L Greensmith and G Vrbova
359
Possible strategies for treatment of SMA patients: a neurobiologist's view
J Dick, L Greensmith and G Vrbova
371
Blocking of NMOA receptors during a critical stage of development reduces the effects of nerve injury at birth on muscles and motoneurones
K Ikeda, M Kinoshita, Y Iwasaki, N Tagaya and T Shiojima
383
Lecithinized superoxide dismutase retards wobbler mouse motoneuron disease
G Manfredi, E A Schon, C T Moraes, E Bonilla, G T Berry, J T Sladky and S DiMauro
391
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
P Lafor~t, A Lomb~.s, B Eymard, C Danan, M Chevallay, A Rouche, P Frachon and M Fardeau
399
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients
R J Freilich, R L G Kirsner and E Byrne
415
Isometric strength and thickness relationships in human quadriceps muscle
F Dworzak, M Mora, 423 C Borroni, F Cornelio, F Blasevich, A Cappellini, F Tagliavini and B Bertagnolio
Generalized lysosomal storage in Yunis Var6n syndrome
E Arikawa-Hirasawa, R Koga, T Tsukahara, I Nonaka, A Mitsudome, K Goto, A H Beggs and K Arahata
429
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophinassociated glycoprotein (DAG) may not be enough for physiological function of dystrophin
Erratum
439
Announcement
440
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopathies: Gene Mutation
I V
XlV
Volume 5
Number 6
Gene Hotline C Wallgren-Pettersson, K Avela, 441 S Marchand, J Kolehmainen, E Tahvanainen, F Juul Hansen, F Muntoni, V Dubowitz, M de Visser, I M van Langen, N G Laing, S Faur6 and A de la Chapelle
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by Iinlu~e analysis
Review Article A McArdle, R H T Edwards and M J Jackson
445
How does dystrophin deficiency lead to muscle degeneration?--Evidence from the mdx mouse
Research Papers N R Swanson, S A Fox and F L Mastaglia
457
Search for persistent infection with poliovirus or other enteroviruses in amyotrophic lateral sclerosis-motor neurone disease
467
Abnormal expression of heperen sulfate proteoglycan on basel lamina of muscle fibers in two Japanese patients with adhslin deficiency
475 A Toscano, L Vitiello, G P Comi, F Galvagni, M Miorin, A Prelle, F Fortunato, A Bardoni, M Mora, A Fiumara, R Falsaperla, G Tomelleri, P Tonin, G A Daniali and G Vita
Duplication of dystrophin gene and dissimilar clinicel phenotype in the same family
M Ozawa, Y-I Goto, R Sakuta, Y Tanno, S Tsuji and I Nonaka
483
The 8~344mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings
J P Louboutin, V Fichter-Gagnepain, C Pastoret, E Thaon, J Noireaud, A S6bille and M Fardeau
489
Morphological and functional study of extensor digitorum Iongus muscle regeneration after iterative crush lesions in mdx mouse
J P Lefaucheur and A S6bille
501
The cellular events of injured muscle regeneration depend on the nature of the injury
J T Vilquin, I Kinoshita, R Roy and J P Tremblay
511
Cyclophosphamide immunosuppression does not permit successful myoblest allotransplantation in
I Higuchi, H Fukunaga, K Matsumura, M Inose, K Izumi, R Okubo, M Nakagawa, T Shimizu and M Osame
mouse
Obituary V Dubowitz
519
Anita Harding (1952-1995)
XV
Letter to the Editor
521
Book Reviews
523
Announcement
527
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopath ies: Gene Mutation Volume Contents, Author Index and Key Word Index for Volume 5
I
V
VII
XVI
Author Index Abresch, R.T. 323 Agid, Y. 11 Angelini, C. 157 Arahata, K. 53, 201,429 Arikawa-Hirasawa, E. 429 Arnold, D. 139 Avela, K. 441
Backman, E. 193, 233 Bardoni, A. 475 Barnes, P. R.J. 59, 209 Barth, P.G. 267 Baumann, N. 11 Beckman, J.S. 337 Beggs, A . H . 429 Benjamin, D. 209 Bemasconi, P. 291 Berry, G.T. 391 Bertagnolio, B. 423 Bittner, R.E. 8 i Bjornskov, E.K. 39 Blake, D. 105 Blasevich, F. 423 Blaszczyk, M. 145 Bonilla, E. 391 Bonnefont, J-P. 285 Borroni, C. 423 Boyd, Y. 209 Brice, A. 11 Brown, G.K. 209 Brown, Jr, R.H. 7, 353 Brown, R. 209 Brueton, L. 59 Bushby, K. M. D. 71,337 Byrne, E. 415 Caldwell, C.J. 317 Cappellini, A. 423 Carpenter, S. 139 Carroll, J.E. 263 Carry, M.R. 39 Carter, G.T. 323 Chevallay, M. 399 Chretien, D. 285 Clague, J.E. 171 Clarke, A. 93 Comi, G.P. 475 Comelio, F. 291,423 Craig, I.W. 209 Cremer, M. 81 Crosti, F. 291 Dallapiccola, B. Danan, C. 399
157
Danieli, G.A. 475 Daniels, R.J. 25 Davies, K. 105, 333 Davies, K.E. 25 de la Chapelle, A. 221,441 de Visser, M. 441 de F~tima Tones, M. 187 Dick, J. 371 DiMauro, S. 263, 391 do Ros~io Almeida, M. 187 Dubowitz, V. 1,3, 7, 25, 227, 301, 307, 253,441 Dfn'r, A. 11 Dworzak, F. 423 Edwards, R. H. T. Esteban, J. 353 Eymard, B. 399
171,445
Falsaperla, R. 475 Fardeath M. 161,253,399, 489 Ferlings, R. 81 Fichter-Gagnepain, V. 489 Figlewicz, D.A. 7 Fiumara, A. 475 Fontaine, B. 11 Fortunato, F. 475 Fowler, Jr, W.M. 323 Fox, S.A. 457 Frachon, P. 399 Freilich, R.J. 415 Fukunaga, H. 467 Furukawa, T. 201 Galvagni, F. 475 Gebbia, M. 291 Geddes, J.F. 317 Genge, A. 139 Gennarelli, M. 157 Ghadimm"ejad, I. 129 Gibson, H. 171 Goebel, H.H. 161 Gorospe, J.R. 193 Goto, Y-I. 149, 483 Goto, K. 53, 201,429 Greensmith, L. 359, 371 Grimm, T. 243 Guerin, C. 105 Hamano, K. 53 Harttmg, H-P 75 Hausmanowa-Petrusewicz, I. 145 Hazan, J. 11 Henriksson, K-G. 125,233, 193 XVII
Higuchi, I. 467 Hilton-Jones,D. 59, 209 Hirabayashi,K. 201 Hoffman, E.P. 193 Holland, P. 105 HHolmberg, C. 93 Hope, P. 129 Hopkin, J, 209 Horasek, S.J. 323 Horvitz,H.R. 353 Hosler, B.A. 353 I.iuson,S.M. 59
Iaizzo, P.A. 115 Iida, K. 53 Ikeda, K. 383 Inose,M. 467 Ionasescu,V. 297 Ionasescu,R. 297 Islander,G. 125 Itoh,M. 149 Iwasaki, Y. 383 Izumi, K. 467 Jablohska, S. 145 Jackson, M.J. 445 Jap, P. H.K. 267 Jasani, B. 93 Jo/io Saraiva, M. 187 Jones, S. 93 Jongen, P. J.H. 31 Juul I-Iansen, F. 441 Kanabar, D.J. 59 Karpati, G. 105, 139, 209 Kasicki, S. 179 Katsumi, Y. 149 Katz, F.H. 39 Kazakov, V.M. 47 Kinoshita, M. 383 Kinoshita, I. 511 Kirsner, R. L.G. 415 Koga, R. 429 Kojo, T. 201 Kolehmainen, J. 441 Kovalenko, T.M. 47 Kress, W. 81 Lafor~t, P. 399 Laing, N.G. 441 Land, J.M. 129 Lee, J.H. 201 Lefaucheur, J.P. 501 LefkowRz, J. 39
L6ger, J.J. 81 Lehmarm-Hom, F. 115 Lindahl, M. 193 Lomb~s, A. 399 Louboutin, J.P. 489 Lyon-Caen, O. 11
Pastoret, C. 489 Penet, C. 11 Pennock, J. 227, 301 Philpot, J. 67, 227, 301,307 Pihko, H. 221 Prelle, A. 475
Mahony, D. 307 Manfredi, G. 391 Mann, N.P. 59 Mantegazza, R. 291 Marchand, S. 441 Mastaglia, F.L. 457 Matsuda, C. 201 Matsumura, K. 467 Matthews, P.M. 209 McArdle, A. 445 MeKenna-Yasek, D. 7, 353 Menegazzo, E. 157 Meninger, V. 7 Meschino, W. 297 Miorin, M. 475 Mistry, S. 129 Mitsudome, A. 429 Mitsunaga, Y. 201 Mizusawa, H. 53 Mora, M. 291,423,475 Morandi, L. 291 Morris, G.E. 93 Miiller, C.R. 81 Munnich, A. 285 Munsat, T.L. 333 Muntoni, F. 67, 307, 441 Murakami, N. 149
Quasthoff, S.
Nakagawa, M. 467 Nakamura, A. 201 Naurnann, M. 277 Navarrete, R. 179 Newman, G.R. 93 Newsom-Davis, J. 59 Nieholson, L. V.B. 209 Noireaud, J. 489 Nonaka, I. 149, 429, 483 Novelli, G. 157 O'Regan, J.P. 353 Ohkoshi, N. 53 Okubo, R. 467 Orford, M. 129 Osame, M. 149, 467, 483 Parboosingh, J.S. Pasquini, F. 105
7
115
Rabier, D. 285 Rarnaekers, F. C.S. 267 Ranklev-Twetman, E. 125 Ranta, S. 221 Rapola, J. 93 Reboul, J. 11 Reichmann, H. 277 Rime, C-S. 11 Ringel, S.P. 39 Roberts, N. 171 R6hrig, D. 19 Rosen, D.R. 353 RStig, A. 285 Rouche, A. 399 Rouleau, G.A. 7 Roy, R. 511 Rudnik-SchSnebom, S. 19 Rustin, P. 285 Sabina, R.L. 263 Saggerson, D. 129 Sahashi, K. 201 Sakuta, R. 483 Santavuori, P. 221 Sapp, P.C. 353 Saudubray, J-M. 285 Saule, H. 19 Saunier, P. 285 Schalke, B. 277 Schon, E.A. 391 Schr6der, J.M. 75 Searby, Ch. 297 S6bille, A. 489, 501 Seibel, P. 277 Sengers, R. C.A. 267 Sewry, C.A. 307 Sewry, C. 209, 301 Shanske, S. 263 Shimizu, T. 467 Shiojima, T. 383 Shoji, S. 53 Shorny, S. 81 Shoubridge, E.A. 139 Singhrao, S. 93 Skellett, S. 67 XVIli
Sladky, J.T. 391 Slawimka, U. 179 Somer, H. 249 Sped, W. 81 Squier, M. 129 Squier, M.V. 209 Stadhouders, A.M. 31,267 Stevanin, G. 11 Sugishita, Y. 53 Swanson, N.R. 457 Swash, M. 317 Tagaya, N. 383 Tagliavini, F. 423 Tahvanainen, E. 221,441 Takagi, A. 53 Tarmo, Y. 483 ter Laak, H.J. 31 Thaon, E. 489 Tomelleri, G. 475 Tonin, P. 475 Topaloglu, H. 227 Toscano, A. 475 Toyama, M. 53 Toyka, K.V. 75 Toyka, K. 277 Tremblay, J.P. 511 Tsuji, S. 483 Tsujino, S. 263 Tsukahara, T. 429 van Langen, I.M. 441 van Bakel, I. 209 van der Ven, P. F.M. 267 van der Walt, J.D. 317 Vilquin, J.T. 511 Virtanen, I. 93 Vita, G. 475 Vitiello, L. 475 Voit, T. 81 Vrbova, G. 179, 359, 371 Wada, T. 149 Wallgren-Pettersson, C. Walsh, S.A. 323 Weissenbach, J. 11 Wilson, L.A. 307 Wineinger, M.A. 323 Wirth, B. 19 Wood, C. 285 Yoshizawa, T. Ze~es, K.
19
53
93,441
Key Word Index c~-actinin 93 8,344 mutation 483 Actin-binding domain 429 Activity 371 Adhalin deficiency 467 ALS 353 ALS-motor neurone disease 457 Alternative splicing 429 AMP deaminase deficiency 263 Anticipation 157 201 Antioxidant 383 Autoimmune myopathy 145 Autosomal recessive 441 Basallamina 149 467 Beckermusculardystrophy 53 193 233 475 Bilateralbrachi~ p~sy 67 c oxidase 285 Caffeine contracture 53 Cardiomyopathy 149 Carnitine palmitoyltransferase 129 Catalase 7 Celltransplantation 511 Central core disease 125 Charcot-Marie-Tooth neuropathies 297 Chromosome 5q 25 Congenital muscular dystrophy 301 Congenital myopathies 93 Congenital malformation 67 Congenital muscular dystrophy 307 Congenital arthrogryposis 59 Congenital myopathy 441 Connexin 32 gene 297 COX 391 Crush injury 489 CTG repeat size 157 Cyclophosphamide 511 Cytochrome 285 Cytoplasmic membrane 149 Debendox (Bendection) 67 Denervation-devascularization Desmin 93 501 Development 179 371 Diabetes mellims 39 Diagnosis 31 Digital anomalies 423 DMD 291 DNA rearrangements 201 DRP 81
501
Duchenne muscular dystrophy 81 105 193 233 Dystrophin 53 105 193 291 475 511 Dystrophin C-terminus 81 Dystrophin-associated glycoprotein (DAG) 429 Dystrophinopathies 193 Dystrophon 429
Locomotion 179 Lysosomal storage disease
423
Maerophage 501 Malignant hyperth~nia 53 Malignant hyperthermia susceptibility 125 M a x i m u m voluntarycontraction 415 M d x mouse 489 Ectodermal anomalies 423 MELAS 391 EDL 489 Mental Retardation 149 Electron microscopy 93 Merosin 301 307 Embryonic grafts 359 MERRF 483 EMG activity 179 MHC antigens 317 Enterovirus 457 Mitochondria 129 285 Excitatoxicity 359 371 Mitochondrial genome 277 Exclusion 221 Mitochondrial myopathy with raggedExercise 323 red fibers 483 Extracellular matrix 307 Mitochondrial DNA 483 Extro-cellular matrix 467 Mn superoxide dismutase (SOD2) 7 Molecular genetics 25 Facial dysmorphism 423 Motoneuron disease 383 Facioscapulohumeral muscular Motor units 371 dystrophy 201 Motor unit territory 359 Familial amyloid neuropathy 187 Motor neurons of spinal cord 47 Familial amyotrophic lateral sclerosis Motor neuron disease 353 (FALS) 7 Motomeurone death 359 Fetal myosin 307 Mouse model 489 Filamentous inclusions 31 MRI 301 Free radical 383 mtDNA 391 Fukuyama type congenital muscular Muscle force 233 dystrophy (FCMD) 221 Muscle regeneration 489 Muscle fibre immaturity 267 Genes 353 Muscle infarction 39 Genetic diagnosis 201 Muscle strength and size 415 Genetic counselling 59 Muscle size-body weight Genetic location 441 relationships 415 Glueocortieoids 105 Muscle necrosis 501 Muscle contraction 323 Heparan sulfate proteoglycan 467 Muscle-Eye-Brain disease (MEB) Hypercoagnlabe 39 221 Hyperkalemic periodic paralysis Muscular dystrophy (animal) 323 115 Hypokalernie periodic paralysis 115 Muscular dystrophy 429 Mutation analysis 7 Immunocytocbemistry 93 267 307 Mutation scanning 187 317 Mutations 297 Immunosuppression 511 Imterrnediate filament proteins 267 Myasthenia 145 Myasthenia gravis 59 In vitro contraction test 115 Myoblast 511 Inclusion body myositis 31 Myoblast transfer 291 Intragenic deletion 81 Myogenesis 105 Laminin 307 467 501 Myoglobinuria 263 285 Linkage analysis 441 Myopathy 129 XIX
Myophosphorylase deficiency 263 Myosin 371 Myositis 317 Myotonic dystrophy 157 Nemaline (rod) myopathy 93 441 Neonatal 59 129 Neuromuscular junction 59 Neuromuscular disease 125 Neuromuscular disorders, 93 Neurotrophic factors 359 Nitrofurantoin 67 Nonsense mutation 263 Notexin 501 Nreve injury 371 Olivopontoeerebellar hypoplasia 25 Open reading frame 81
PC-SOD 383 Phospholipase A2 193 Plasmapheresis 59
Point mutation 391 Poliovirus 457 Polymerase chain reaction 457 Prednisolone 233 Prednisone 105 Protein synthesis 47 Radioautography 47 Rhabdomyolysis 53 Rhizotomy 179 Rimmed basophilic vacuoles 31 Sarcoid myopathy 277 Scleromyositis 145 SDH deficiency 277 Single strand conformation polymorphisms 187 Skeletal muscle 47 129 371 Skeletal muscle cell cultures 267 SMA 359 SOD1 353 Soleus muscle 179
XX
Spinal muscular atrophy 25 Spinal cord 457 SSCA 7 Teratogen 67 Thyrotoxic myopathy 47 Thyrotoxic periodic paralysis Titin 267 Transthyretin 187 Utrophin
115
105
Vacuolar myopathy
149
Werdnig-Hoffmann disease Western blot 93 Wobbler mouse 383
25
X-linked myombular myopathy 267 X-linked 297 Xp21 gene duplication 475 Yunis Var6n syndrome 423
Number I
V Dubowitz
1
Commentary from the Editor
3
Chaos in the classification of SMA: a possible resolution
Annotation
V Dubowitz
Research papers
Absence of mutations in the Mn superoxide dismutase or cstalese genes in familial amyotrophic lateral sclerosis
J S Parboosingh, G A Rouleau, V Meninger, D McKenna-Yasek, R H Brown Jr and D A Figlewicz B Fontaine, C-S Rime, J Hazan, A DOrr, G Stevanin, C Penet, J Reboul, Y Agid, 0 Lyon-Caen, N Baumann, J Weissenbach and A Brice
11
Exclusion of the candidate locus FSP1 in six families with late-onset autocomel dominant spastic paraplegia
S Rudnik-Sch6neborn, B Wirth, D R6hrig, H Saule and K Zerres
19
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration
V Dubowitz, R J Daniels and K E Davies
25
Olivopontocerebellar hypoplesie with anterior horn cell Involvement (SMA) does not localize to chromosome 5q
P J H Jongen, H J ter Laak and A M Stadhouders
31
Rimmed besophilic vacuoles and filamentous inclusions in neuromuscular disorders
E K Bjornskov, M R Carry, F H Katz, J Lefkowitz and S P Ringel
39
Diabetic muscle infarction: a new perspective on pathogenesis and management
V M Kazakov and T M Kovalenko
47
Experimental thyrotoxic myopathy: radioautography of protein synthesis in skeletal muscle end motor neurons of spinel cord
N Ohkoshi, T Yoshizawa, 53 H Mizusawa, S Shoji, M Toyama, K lida, Y Sugishita, K Hamano, A Takagi, K Goto and K Arahata
Malignant hyperthermia in a patient with Bocker muscular dystrophy: dystrophin analysis and caffeine contracture study
IX
P R J Barnes, D J Kanabar, L Brueton, J Newsom-Davis, S M Huson, N P Mann and D Hilton-Jones
59
Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother
J Philpot, F Muntoni, S Skellett and V Dubowitz
67
Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?
K M D Bushby
71
Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on limb-girdle dystrophies
Meeting Report J M Schr6der, K V Toyka and H-P Hartung
75
11th meeting of the peripheral nerve study group (PNSG)
79
Erratum
Workshop Report
Neuromuscular Disorders: Gene Location Mitochondrial
I IX
Encephalomyopathies: Gene Mutation
Volume 5
Number 2
Research papers R E Bittner, S Shorny, 81 R Ferlings, W Sperl, W Kress, C R M(Jller, M Cremer, J J L6ger and T Volt
Sercolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-raleted protein in two DMD patients with large deletions of the dystrophin gene
C Wallgren-Pettersson, 93 B Jasani, G R Newman, G E Morris, S Jones, S Singhrao, A Clarke, I Virtanen, C Holmberg and J Rapola
Alpha-actinin in nemaline bodies in congenital nemaline myopethy: immunological confirmation by light and electron microscopy
F Pasquini, C Guerin, D Blake, K Davies, G Karpati and P Holland
105
The effect of glucocorticoids on the accumulation of utrophin by cultured normal and dystrophic human skeiatsl muscle satellite ceils
P A laizzo, S Quasthoff and F Lehmann-Horn
115
Differential diagnosis of periodic paralysis aided by in vitro myography
G Islander, K-G Henriksson and E Ranklev-Twetman
125
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed
J M Land, S Mistry, M Squier, P Hope, I. Ghadiminejad, M Orford and D Saggerson
129
Neonatal carnitine palmltoyltransferese-2 deficiency: a case presenting with myopathy
A Genge, G Karpati, D Arnold E A Shoubridge and S Carpenter
139
Familial myopathy with conspicuous depletion of mltochondria in muscle fibers: a morphologically distinct disease
I Hausmanowa-Petrusewicz, M Blaszczyk and S Jablo(lska
145
Coexistence of scleromyositis associated with PMSCL antibody and myasthenia
N Murakami, Y Goto, M Itoh, Y Katsumi, T Wada, E Ozawa and I Nonaka
149
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy
G Novelli, M Gennarelli, E Menegazzo, C Angelini and B Dallapiccola
157
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n >700 repeats
Workshop Report H H Goebel and M Fardeau
161
Desmin in myology
Book Reviews
167
Neuromuscular Disorders: Gene Location Mitochondria/ Encephalomyopathies: Gene Mutation
Volume 5
v
Number 3
Research papers J E Clague, N Roberts, H Gibson and R H T Edwards
171
Muscle imaging in health and disease
U Slawir~ska, R Navarrete, S Kasicki and G Vrbovd
179
Motor activity patterns in rat soleus muscle after neonatal partial denervation
M de Fdtima Torres, M do Rosdrio Almeida and M Jo~o Saraiva
187
1-rR exon scanning in peripheral neuropathies
M Lindahl, E Bickman, K G Henriksson, J R Gorospe and E P Hoffman
193
Phospholipese A= activity in dystrophinopathles
K Goto, J H Lee, C Matsuda, K Hirabayashi, T Kojo, A Nakamura, Y Mitsunaga T Furukawa, K Sahashi and K Arahata
201
DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations
Xl
P M Matthews, D Benjamin, I van Bakel, M V Squier, L V B Nicholson, C Sewry, P R J Barnes, J Hopkin, R Brown, D Hilton-Jones, Y Boyd, G Karpati, G K Brown and I W Craig
209
Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers
S Ranta, H Pihko, P Santavuori, E Tahvanainen and A de la Chapalle
221
MusclHye-brain disease and Fukuyama type congenital muscular dystrophy are not alialic
J Philpot, H Topaloglu, J Pennock and V Dubowitz
227
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy
E Biickman and K G Henriksson
233
Low-dose prednisolone treatment in Duchenne and Beeker muscular dystrophy
T Grimm
243
Peter Emil Becker--a short biography on the occasion of his 85th birthday
Workshop Reports H Somer
249
25th ENMC workshop on distal myopathies
V Dubowitz
253
27th ENMC worskhop on congenital muscular dystrophy
Book Review
259
Announcement
260
ENMC News
261
Historical Vignette
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopath ies: Gene Mutation
Volume 5
I V
Number 4
Research Papers S Tsujino, S Shanske, J E Carroll, R L Sabina and S DiMauro P F M van der Ven, P H K Jap, P G Barth, R C A Sengers, F C S Ramaekers and A M Stadhouders
263
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
267
Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro
Xll
H Reichmann, B Schalke, P Seibel, M Naumann and and K Toyka
277
Sarcoid myopathy end mitochondrlel respiratory chain defects: clinicopothological, biochemical and molecular biological analyses
P Saunier, D Chretien, 285 C Wood, A R6tig, J-P Bonnefont, J-M Saudubray, D Rabier, A Munnich and P Rustin
Cyteohrome c oxidese doficlenoy presenting as recurrent neonatal myoglobinuria
L Morandi, P Bernasconi, M Gebbia, M Mora, F Crosti, R Mantegazza and F Cornelio
291
Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer
V Ionasescu, Ch Searby, R Ionasescu and W Meschino
297
New point mutations and deletions of the connexin 32 gsne in X-linked Cheroot-Made-Tooth neuropathy
J Philpot, C Sewn/, J Pennock 301 and V Dubowitz
Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle
C A Sewn/, J Philpot, D Mahony, L A Wilson, F Muntoni and V Dubowitz
307
Expression of laminin subunits in congenital muscular dystrophy
C J Caldwell, M Swash, J D van der Walt and J F Geddes
317
Focal myositis: a clinicopathological study
G T Carter, M A Wineinger, 323 S A Welsh, S J Horasek, R T Abresch and W M Fowler Jr Workshop Reports T Munsat and K Davies
Effect of voluntary wheel-running exercise on muscles of the mdx mouse
333
SMA Consortium (clinical end plenary meetings)
K M D Bushby and J S Beckmann
337
30th and 31st ENMC workshops on the limbgirdle muscular dystrophies--proposal for s new nomenclature
J Poulton
345
28th ENMC workshop on mitochondrial diseases
Book Reviews
347
Letter to the Editor
351
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopathies: Gene Mutation
I
V
XIII
Volume 5
Number 5
Research Papers P C Sapp, D R Rosen, B A Hosler, J Esteban, D McKenna-Yasek, J P O'Regan, H R Horvitz and R H Brown Jr
353
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis
L Greensmith and G Vrbova
359
Possible strategies for treatment of SMA patients: a neurobiologist's view
J Dick, L Greensmith and G Vrbova
371
Blocking of NMOA receptors during a critical stage of development reduces the effects of nerve injury at birth on muscles and motoneurones
K Ikeda, M Kinoshita, Y Iwasaki, N Tagaya and T Shiojima
383
Lecithinized superoxide dismutase retards wobbler mouse motoneuron disease
G Manfredi, E A Schon, C T Moraes, E Bonilla, G T Berry, J T Sladky and S DiMauro
391
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene
P Lafor~t, A Lomb~.s, B Eymard, C Danan, M Chevallay, A Rouche, P Frachon and M Fardeau
399
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients
R J Freilich, R L G Kirsner and E Byrne
415
Isometric strength and thickness relationships in human quadriceps muscle
F Dworzak, M Mora, 423 C Borroni, F Cornelio, F Blasevich, A Cappellini, F Tagliavini and B Bertagnolio
Generalized lysosomal storage in Yunis Var6n syndrome
E Arikawa-Hirasawa, R Koga, T Tsukahara, I Nonaka, A Mitsudome, K Goto, A H Beggs and K Arahata
429
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophinassociated glycoprotein (DAG) may not be enough for physiological function of dystrophin
Erratum
439
Announcement
440
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopathies: Gene Mutation
I V
XlV
Volume 5
Number 6
Gene Hotline C Wallgren-Pettersson, K Avela, 441 S Marchand, J Kolehmainen, E Tahvanainen, F Juul Hansen, F Muntoni, V Dubowitz, M de Visser, I M van Langen, N G Laing, S Faur6 and A de la Chapelle
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by Iinlu~e analysis
Review Article A McArdle, R H T Edwards and M J Jackson
445
How does dystrophin deficiency lead to muscle degeneration?--Evidence from the mdx mouse
Research Papers N R Swanson, S A Fox and F L Mastaglia
457
Search for persistent infection with poliovirus or other enteroviruses in amyotrophic lateral sclerosis-motor neurone disease
467
Abnormal expression of heperen sulfate proteoglycan on basel lamina of muscle fibers in two Japanese patients with adhslin deficiency
475 A Toscano, L Vitiello, G P Comi, F Galvagni, M Miorin, A Prelle, F Fortunato, A Bardoni, M Mora, A Fiumara, R Falsaperla, G Tomelleri, P Tonin, G A Daniali and G Vita
Duplication of dystrophin gene and dissimilar clinicel phenotype in the same family
M Ozawa, Y-I Goto, R Sakuta, Y Tanno, S Tsuji and I Nonaka
483
The 8~344mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings
J P Louboutin, V Fichter-Gagnepain, C Pastoret, E Thaon, J Noireaud, A S6bille and M Fardeau
489
Morphological and functional study of extensor digitorum Iongus muscle regeneration after iterative crush lesions in mdx mouse
J P Lefaucheur and A S6bille
501
The cellular events of injured muscle regeneration depend on the nature of the injury
J T Vilquin, I Kinoshita, R Roy and J P Tremblay
511
Cyclophosphamide immunosuppression does not permit successful myoblest allotransplantation in
I Higuchi, H Fukunaga, K Matsumura, M Inose, K Izumi, R Okubo, M Nakagawa, T Shimizu and M Osame
mouse
Obituary V Dubowitz
519
Anita Harding (1952-1995)
XV
Letter to the Editor
521
Book Reviews
523
Announcement
527
Neuromuscular Disorders: Gene Location Mitochondrial Encephalomyopath ies: Gene Mutation Volume Contents, Author Index and Key Word Index for Volume 5
I
V
VII
XVI
Author Index Abresch, R.T. 323 Agid, Y. 11 Angelini, C. 157 Arahata, K. 53, 201,429 Arikawa-Hirasawa, E. 429 Arnold, D. 139 Avela, K. 441
Backman, E. 193, 233 Bardoni, A. 475 Barnes, P. R.J. 59, 209 Barth, P.G. 267 Baumann, N. 11 Beckman, J.S. 337 Beggs, A . H . 429 Benjamin, D. 209 Bemasconi, P. 291 Berry, G.T. 391 Bertagnolio, B. 423 Bittner, R.E. 8 i Bjornskov, E.K. 39 Blake, D. 105 Blasevich, F. 423 Blaszczyk, M. 145 Bonilla, E. 391 Bonnefont, J-P. 285 Borroni, C. 423 Boyd, Y. 209 Brice, A. 11 Brown, G.K. 209 Brown, Jr, R.H. 7, 353 Brown, R. 209 Brueton, L. 59 Bushby, K. M. D. 71,337 Byrne, E. 415 Caldwell, C.J. 317 Cappellini, A. 423 Carpenter, S. 139 Carroll, J.E. 263 Carry, M.R. 39 Carter, G.T. 323 Chevallay, M. 399 Chretien, D. 285 Clague, J.E. 171 Clarke, A. 93 Comi, G.P. 475 Comelio, F. 291,423 Craig, I.W. 209 Cremer, M. 81 Crosti, F. 291 Dallapiccola, B. Danan, C. 399
157
Danieli, G.A. 475 Daniels, R.J. 25 Davies, K. 105, 333 Davies, K.E. 25 de la Chapelle, A. 221,441 de Visser, M. 441 de F~tima Tones, M. 187 Dick, J. 371 DiMauro, S. 263, 391 do Ros~io Almeida, M. 187 Dubowitz, V. 1,3, 7, 25, 227, 301, 307, 253,441 Dfn'r, A. 11 Dworzak, F. 423 Edwards, R. H. T. Esteban, J. 353 Eymard, B. 399
171,445
Falsaperla, R. 475 Fardeath M. 161,253,399, 489 Ferlings, R. 81 Fichter-Gagnepain, V. 489 Figlewicz, D.A. 7 Fiumara, A. 475 Fontaine, B. 11 Fortunato, F. 475 Fowler, Jr, W.M. 323 Fox, S.A. 457 Frachon, P. 399 Freilich, R.J. 415 Fukunaga, H. 467 Furukawa, T. 201 Galvagni, F. 475 Gebbia, M. 291 Geddes, J.F. 317 Genge, A. 139 Gennarelli, M. 157 Ghadimm"ejad, I. 129 Gibson, H. 171 Goebel, H.H. 161 Gorospe, J.R. 193 Goto, Y-I. 149, 483 Goto, K. 53, 201,429 Greensmith, L. 359, 371 Grimm, T. 243 Guerin, C. 105 Hamano, K. 53 Harttmg, H-P 75 Hausmanowa-Petrusewicz, I. 145 Hazan, J. 11 Henriksson, K-G. 125,233, 193 XVII
Higuchi, I. 467 Hilton-Jones,D. 59, 209 Hirabayashi,K. 201 Hoffman, E.P. 193 Holland, P. 105 HHolmberg, C. 93 Hope, P. 129 Hopkin, J, 209 Horasek, S.J. 323 Horvitz,H.R. 353 Hosler, B.A. 353 I.iuson,S.M. 59
Iaizzo, P.A. 115 Iida, K. 53 Ikeda, K. 383 Inose,M. 467 Ionasescu,V. 297 Ionasescu,R. 297 Islander,G. 125 Itoh,M. 149 Iwasaki, Y. 383 Izumi, K. 467 Jablohska, S. 145 Jackson, M.J. 445 Jap, P. H.K. 267 Jasani, B. 93 Jo/io Saraiva, M. 187 Jones, S. 93 Jongen, P. J.H. 31 Juul I-Iansen, F. 441 Kanabar, D.J. 59 Karpati, G. 105, 139, 209 Kasicki, S. 179 Katsumi, Y. 149 Katz, F.H. 39 Kazakov, V.M. 47 Kinoshita, M. 383 Kinoshita, I. 511 Kirsner, R. L.G. 415 Koga, R. 429 Kojo, T. 201 Kolehmainen, J. 441 Kovalenko, T.M. 47 Kress, W. 81 Lafor~t, P. 399 Laing, N.G. 441 Land, J.M. 129 Lee, J.H. 201 Lefaucheur, J.P. 501 LefkowRz, J. 39
L6ger, J.J. 81 Lehmarm-Hom, F. 115 Lindahl, M. 193 Lomb~s, A. 399 Louboutin, J.P. 489 Lyon-Caen, O. 11
Pastoret, C. 489 Penet, C. 11 Pennock, J. 227, 301 Philpot, J. 67, 227, 301,307 Pihko, H. 221 Prelle, A. 475
Mahony, D. 307 Manfredi, G. 391 Mann, N.P. 59 Mantegazza, R. 291 Marchand, S. 441 Mastaglia, F.L. 457 Matsuda, C. 201 Matsumura, K. 467 Matthews, P.M. 209 McArdle, A. 445 MeKenna-Yasek, D. 7, 353 Menegazzo, E. 157 Meninger, V. 7 Meschino, W. 297 Miorin, M. 475 Mistry, S. 129 Mitsudome, A. 429 Mitsunaga, Y. 201 Mizusawa, H. 53 Mora, M. 291,423,475 Morandi, L. 291 Morris, G.E. 93 Miiller, C.R. 81 Munnich, A. 285 Munsat, T.L. 333 Muntoni, F. 67, 307, 441 Murakami, N. 149
Quasthoff, S.
Nakagawa, M. 467 Nakamura, A. 201 Naurnann, M. 277 Navarrete, R. 179 Newman, G.R. 93 Newsom-Davis, J. 59 Nieholson, L. V.B. 209 Noireaud, J. 489 Nonaka, I. 149, 429, 483 Novelli, G. 157 O'Regan, J.P. 353 Ohkoshi, N. 53 Okubo, R. 467 Orford, M. 129 Osame, M. 149, 467, 483 Parboosingh, J.S. Pasquini, F. 105
7
115
Rabier, D. 285 Rarnaekers, F. C.S. 267 Ranklev-Twetman, E. 125 Ranta, S. 221 Rapola, J. 93 Reboul, J. 11 Reichmann, H. 277 Rime, C-S. 11 Ringel, S.P. 39 Roberts, N. 171 R6hrig, D. 19 Rosen, D.R. 353 RStig, A. 285 Rouche, A. 399 Rouleau, G.A. 7 Roy, R. 511 Rudnik-SchSnebom, S. 19 Rustin, P. 285 Sabina, R.L. 263 Saggerson, D. 129 Sahashi, K. 201 Sakuta, R. 483 Santavuori, P. 221 Sapp, P.C. 353 Saudubray, J-M. 285 Saule, H. 19 Saunier, P. 285 Schalke, B. 277 Schon, E.A. 391 Schr6der, J.M. 75 Searby, Ch. 297 S6bille, A. 489, 501 Seibel, P. 277 Sengers, R. C.A. 267 Sewry, C.A. 307 Sewry, C. 209, 301 Shanske, S. 263 Shimizu, T. 467 Shiojima, T. 383 Shoji, S. 53 Shorny, S. 81 Shoubridge, E.A. 139 Singhrao, S. 93 Skellett, S. 67 XVIli
Sladky, J.T. 391 Slawimka, U. 179 Somer, H. 249 Sped, W. 81 Squier, M. 129 Squier, M.V. 209 Stadhouders, A.M. 31,267 Stevanin, G. 11 Sugishita, Y. 53 Swanson, N.R. 457 Swash, M. 317 Tagaya, N. 383 Tagliavini, F. 423 Tahvanainen, E. 221,441 Takagi, A. 53 Tarmo, Y. 483 ter Laak, H.J. 31 Thaon, E. 489 Tomelleri, G. 475 Tonin, P. 475 Topaloglu, H. 227 Toscano, A. 475 Toyama, M. 53 Toyka, K.V. 75 Toyka, K. 277 Tremblay, J.P. 511 Tsuji, S. 483 Tsujino, S. 263 Tsukahara, T. 429 van Langen, I.M. 441 van Bakel, I. 209 van der Ven, P. F.M. 267 van der Walt, J.D. 317 Vilquin, J.T. 511 Virtanen, I. 93 Vita, G. 475 Vitiello, L. 475 Voit, T. 81 Vrbova, G. 179, 359, 371 Wada, T. 149 Wallgren-Pettersson, C. Walsh, S.A. 323 Weissenbach, J. 11 Wilson, L.A. 307 Wineinger, M.A. 323 Wirth, B. 19 Wood, C. 285 Yoshizawa, T. Ze~es, K.
19
53
93,441
Key Word Index c~-actinin 93 8,344 mutation 483 Actin-binding domain 429 Activity 371 Adhalin deficiency 467 ALS 353 ALS-motor neurone disease 457 Alternative splicing 429 AMP deaminase deficiency 263 Anticipation 157 201 Antioxidant 383 Autoimmune myopathy 145 Autosomal recessive 441 Basallamina 149 467 Beckermusculardystrophy 53 193 233 475 Bilateralbrachi~ p~sy 67 c oxidase 285 Caffeine contracture 53 Cardiomyopathy 149 Carnitine palmitoyltransferase 129 Catalase 7 Celltransplantation 511 Central core disease 125 Charcot-Marie-Tooth neuropathies 297 Chromosome 5q 25 Congenital muscular dystrophy 301 Congenital myopathies 93 Congenital malformation 67 Congenital muscular dystrophy 307 Congenital arthrogryposis 59 Congenital myopathy 441 Connexin 32 gene 297 COX 391 Crush injury 489 CTG repeat size 157 Cyclophosphamide 511 Cytochrome 285 Cytoplasmic membrane 149 Debendox (Bendection) 67 Denervation-devascularization Desmin 93 501 Development 179 371 Diabetes mellims 39 Diagnosis 31 Digital anomalies 423 DMD 291 DNA rearrangements 201 DRP 81
501
Duchenne muscular dystrophy 81 105 193 233 Dystrophin 53 105 193 291 475 511 Dystrophin C-terminus 81 Dystrophin-associated glycoprotein (DAG) 429 Dystrophinopathies 193 Dystrophon 429
Locomotion 179 Lysosomal storage disease
423
Maerophage 501 Malignant hyperth~nia 53 Malignant hyperthermia susceptibility 125 M a x i m u m voluntarycontraction 415 M d x mouse 489 Ectodermal anomalies 423 MELAS 391 EDL 489 Mental Retardation 149 Electron microscopy 93 Merosin 301 307 Embryonic grafts 359 MERRF 483 EMG activity 179 MHC antigens 317 Enterovirus 457 Mitochondria 129 285 Excitatoxicity 359 371 Mitochondrial genome 277 Exclusion 221 Mitochondrial myopathy with raggedExercise 323 red fibers 483 Extracellular matrix 307 Mitochondrial DNA 483 Extro-cellular matrix 467 Mn superoxide dismutase (SOD2) 7 Molecular genetics 25 Facial dysmorphism 423 Motoneuron disease 383 Facioscapulohumeral muscular Motor units 371 dystrophy 201 Motor unit territory 359 Familial amyloid neuropathy 187 Motor neurons of spinal cord 47 Familial amyotrophic lateral sclerosis Motor neuron disease 353 (FALS) 7 Motomeurone death 359 Fetal myosin 307 Mouse model 489 Filamentous inclusions 31 MRI 301 Free radical 383 mtDNA 391 Fukuyama type congenital muscular Muscle force 233 dystrophy (FCMD) 221 Muscle regeneration 489 Muscle fibre immaturity 267 Genes 353 Muscle infarction 39 Genetic diagnosis 201 Muscle strength and size 415 Genetic counselling 59 Muscle size-body weight Genetic location 441 relationships 415 Glueocortieoids 105 Muscle necrosis 501 Muscle contraction 323 Heparan sulfate proteoglycan 467 Muscle-Eye-Brain disease (MEB) Hypercoagnlabe 39 221 Hyperkalemic periodic paralysis Muscular dystrophy (animal) 323 115 Hypokalernie periodic paralysis 115 Muscular dystrophy 429 Mutation analysis 7 Immunocytocbemistry 93 267 307 Mutation scanning 187 317 Mutations 297 Immunosuppression 511 Imterrnediate filament proteins 267 Myasthenia 145 Myasthenia gravis 59 In vitro contraction test 115 Myoblast 511 Inclusion body myositis 31 Myoblast transfer 291 Intragenic deletion 81 Myogenesis 105 Laminin 307 467 501 Myoglobinuria 263 285 Linkage analysis 441 Myopathy 129 XIX
Myophosphorylase deficiency 263 Myosin 371 Myositis 317 Myotonic dystrophy 157 Nemaline (rod) myopathy 93 441 Neonatal 59 129 Neuromuscular junction 59 Neuromuscular disease 125 Neuromuscular disorders, 93 Neurotrophic factors 359 Nitrofurantoin 67 Nonsense mutation 263 Notexin 501 Nreve injury 371 Olivopontoeerebellar hypoplasia 25 Open reading frame 81
PC-SOD 383 Phospholipase A2 193 Plasmapheresis 59
Point mutation 391 Poliovirus 457 Polymerase chain reaction 457 Prednisolone 233 Prednisone 105 Protein synthesis 47 Radioautography 47 Rhabdomyolysis 53 Rhizotomy 179 Rimmed basophilic vacuoles 31 Sarcoid myopathy 277 Scleromyositis 145 SDH deficiency 277 Single strand conformation polymorphisms 187 Skeletal muscle 47 129 371 Skeletal muscle cell cultures 267 SMA 359 SOD1 353 Soleus muscle 179
XX
Spinal muscular atrophy 25 Spinal cord 457 SSCA 7 Teratogen 67 Thyrotoxic myopathy 47 Thyrotoxic periodic paralysis Titin 267 Transthyretin 187 Utrophin
115
105
Vacuolar myopathy
149
Werdnig-Hoffmann disease Western blot 93 Wobbler mouse 383
25
X-linked myombular myopathy 267 X-linked 297 Xp21 gene duplication 475 Yunis Var6n syndrome 423