1 | LGMD2C, LGMD2D, LGMD2E, LGMD2F, SGCA, SGCB, SGCD, SGCG
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| Revised spectrum of mutations in sarcoglycanopathies.
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| Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J.
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| Eur J Hum Genet 16(7):793-803. Epub 2008 Feb 20.
2008
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2 | LGMD2E, SGCB
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| Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.
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| Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M.
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| J Med Genet 37(2):102-107 2000
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3 | CAPN3, SGCA, SGCB, TTN
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| Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
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| Fougerousse F, Durand M, Suel L, Pourquie O, Delezoide AL, Romero NB, Abitbol M, Beckmann JS.
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| Genomics 48(2):145-56. 1998
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4 | DMD, LAMB2, SGCA, SGCB
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| Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
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| Jones KJ, Kim SS, North KN.
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| J Med Genet 35(5):379-86. 1998
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5 | LGMD2E, SGCB
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| LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
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| Bonnemann CG, et al.
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| Neuromuscul Disord 8 : 193-197. 1998
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6 | LGMD2E, SGCB
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| beta-sarcoglycan : genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
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| Duclos F, et al.
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| Neuromuscul Disord 8 : 30-38. 1998
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7 | LGMD2E, SGCB
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| Genomic screening for beta-sarcoglycan gene mutations : missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
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| Bonnemann CG, et al.
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| Hum Mol Genet 5 : 1953-1961. 1996
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8 | SGCB, LGMD2E
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| Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
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| Bšnnemann CG, et al.
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| Nat Genet 11 : 266-272. 1995
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9 | SGCB, LGMD2E
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| Beta-sarcoglycan : characterization and role in limb-girdle muscular dystrophy linked to 4q12.
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| Lim LE, et al.
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| Nat Genet 11 : 257-265. 1995
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