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