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