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Congenital myopathies
doi: 10.1053/ejpn.2001.0471 available online at http://www.idealibrary.com on European Journal of Paediatric Neurology 2001; 5: 87±88
GENE TABLE
Congenital myopathies CARINA WALLGREN-PETTERSSON Department of Medical Genetics, University of Helsinki and The FolkhaÈlsan Department of Medical Genetics, Helsinki, Finland
Gene table: Congenital myopathies Disorder
Mode of inheritance
Gene location
Gene symbol
Gene product
Nemaline myopathy
AR
2q21.2-q22
NEM2
Nebulin
1,2
Nemaline myopathy
AD
1q42.1
ACTA1
a-actin, skeletal
3
Nemaline myopathy
AR
1q42.1
ACTA1
a-actin, skeletal
3
Nemaline myopathy
AD
1q21-q23
TPM3
a-tropomyosin
4,5
Nemaline myopathy
AR
1q21-q23
TPM3
a-tropomyosin
6
Nemaline myopathy
AD
9p13.2-p13.1
TPM2
b-tropomyosin
7
Nemaline myopathy
AR
19q13.4
TNNT1
slow troponin T
8
Myotubular myopathy
X
Xq28
MTM1
Myotubularin
9,10,11
Key refs
Central core disease
AD
19q13.1
CCD=RYR1
Ryanodine receptor
12,13,14
Central core disease with rods
AD
19q31
RYR1
Ryanodine receptor
15,16
AR: autosomal recessive; AD: autosomal dominant; X: X-linked.
References 1
2 3
4 5
Wallgren-Pettersson C, Avela K, Marchand S et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc Disord 1995; 5: 441±443. Pelin K, HilpelaÈ P, Sewry C et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA, 1999; 96: 2305±2310. Nowak KJ, Wattanasirichaigoon D, Goebel HH et al. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet, 1999; 23: 208±212. Laing NG, Majda BT, Akkari PA et al. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1. Am J Hum Genet 1992; 50: 576±583. Laing NG, Wilton SD, Akkari PA et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nature Genet 1995; 9: 75±79.
6
Tan P, Briner J, Boltshauser E et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromusc Disord 1999; 9: 573±579.
7
Donner K, Ollikainen M, GroÈnholm M et al. Mutations in the beta-tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy. World Muscle Society Special Millennium Meeting, Kruger National Park, South Africa, 25±29 June, 2000 Abstr. Neuromusc Disord 2000; 10: 342±343.
8
Johnston JJ, Kelley RI, Crawford TO et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000; 67: 814±821.
9
Thomas NST, Sarfarazi M, Roberts K et al. X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 markers, (Abstr.) Cytogenet Cell Genet 1987; 46: 704.
10 Laporte J, Hu LJ, Kretz C et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet 1996; 13: 175±182
Received 15.01.2001. Correspondence: Dr Carina Wallgren-Pettersson, Departments of Medical Genetics, University of Helsinki and FolkhaÈlsan, PO Box 211, FIN-00251 Helsinki, Finland, e-mail: [email protected]
1090±3798/01/05/087+2 $35.00
& 2001 European Paediatric Neurology Society
88
Gene table: C Wallgren-Pettersson
11
Laporte J, Biancalana V, Tanner SM et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 2000; 15: 393±409.
12
Kausch K, Lehmann-Horn F, Janka M. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991; 10: 765±769.
13
Zhang Y, Chen HS, Khanna VK et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nature Genet 1993; 5: 46±49.
14 15
16
Quane KA, Healy JMS, Keating KE et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genet 1993; 5: 51±55. Monnier N, Romero NB, Lerale J et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Molec Genet 2000; 9: 2599±2608. Scacheri PC, Hoffman EP, Fratkin JD et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 55: 1689±1696.
GENE TABLE
Congenital myopathies CARINA WALLGREN-PETTERSSON Department of Medical Genetics, University of Helsinki and The FolkhaÈlsan Department of Medical Genetics, Helsinki, Finland
Gene table: Congenital myopathies Disorder
Mode of inheritance
Gene location
Gene symbol
Gene product
Nemaline myopathy
AR
2q21.2-q22
NEM2
Nebulin
1,2
Nemaline myopathy
AD
1q42.1
ACTA1
a-actin, skeletal
3
Nemaline myopathy
AR
1q42.1
ACTA1
a-actin, skeletal
3
Nemaline myopathy
AD
1q21-q23
TPM3
a-tropomyosin
4,5
Nemaline myopathy
AR
1q21-q23
TPM3
a-tropomyosin
6
Nemaline myopathy
AD
9p13.2-p13.1
TPM2
b-tropomyosin
7
Nemaline myopathy
AR
19q13.4
TNNT1
slow troponin T
8
Myotubular myopathy
X
Xq28
MTM1
Myotubularin
9,10,11
Key refs
Central core disease
AD
19q13.1
CCD=RYR1
Ryanodine receptor
12,13,14
Central core disease with rods
AD
19q31
RYR1
Ryanodine receptor
15,16
AR: autosomal recessive; AD: autosomal dominant; X: X-linked.
References 1
2 3
4 5
Wallgren-Pettersson C, Avela K, Marchand S et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc Disord 1995; 5: 441±443. Pelin K, HilpelaÈ P, Sewry C et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA, 1999; 96: 2305±2310. Nowak KJ, Wattanasirichaigoon D, Goebel HH et al. Mutations in the skeletal muscle alpha actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet, 1999; 23: 208±212. Laing NG, Majda BT, Akkari PA et al. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1. Am J Hum Genet 1992; 50: 576±583. Laing NG, Wilton SD, Akkari PA et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nature Genet 1995; 9: 75±79.
6
Tan P, Briner J, Boltshauser E et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromusc Disord 1999; 9: 573±579.
7
Donner K, Ollikainen M, GroÈnholm M et al. Mutations in the beta-tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy. World Muscle Society Special Millennium Meeting, Kruger National Park, South Africa, 25±29 June, 2000 Abstr. Neuromusc Disord 2000; 10: 342±343.
8
Johnston JJ, Kelley RI, Crawford TO et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 2000; 67: 814±821.
9
Thomas NST, Sarfarazi M, Roberts K et al. X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 markers, (Abstr.) Cytogenet Cell Genet 1987; 46: 704.
10 Laporte J, Hu LJ, Kretz C et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet 1996; 13: 175±182
Received 15.01.2001. Correspondence: Dr Carina Wallgren-Pettersson, Departments of Medical Genetics, University of Helsinki and FolkhaÈlsan, PO Box 211, FIN-00251 Helsinki, Finland, e-mail: [email protected]
1090±3798/01/05/087+2 $35.00
& 2001 European Paediatric Neurology Society
88
Gene table: C Wallgren-Pettersson
11
Laporte J, Biancalana V, Tanner SM et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 2000; 15: 393±409.
12
Kausch K, Lehmann-Horn F, Janka M. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 1991; 10: 765±769.
13
Zhang Y, Chen HS, Khanna VK et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nature Genet 1993; 5: 46±49.
14 15
16
Quane KA, Healy JMS, Keating KE et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genet 1993; 5: 51±55. Monnier N, Romero NB, Lerale J et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Molec Genet 2000; 9: 2599±2608. Scacheri PC, Hoffman EP, Fratkin JD et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 55: 1689±1696.