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
2LGMD2B, LGMD2E
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
Fanin M, Nascimbeni AC, Angelini C.
Neuromuscul Disord 16(11):792-9. Epub 2006 Aug 23. 2006
3LGMD2E
LGMD2E patients risk developing dilated cardiomyopathy.
Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C.
Neuromuscul Disord 13(4):303-9. 2003
4LGMD2E, 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
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
7LGMD2D, LGMD2E
Muscular dystrophy and allied disorders : research strategies. Understanding the heterogeneity of the limb-girdle muscular dystrophies.
Bushby K.
Biochem Soc Trans 24 : 489-496. 1996
8LGMD2E, 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
9LGMD2A, LGMD2C, LGMD2D, LGMD2E, LGMD2F
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
Vainzof M, et al.
Hum Mol Genet 5 : 1963-1969. 1996
10SGCB, 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
11SGCB, LGMD2E
Beta-sarcoglycan : characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Lim LE, et al.
Nat Genet 11 : 257-265. 1995