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Results: 5

1.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E.

Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10.

PMID:
25862795
2.

Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.

Wong-Kisiel LC, Kuntz NL.

Neuromuscul Disord. 2010 Feb;20(2):122-4. doi: 10.1016/j.nmd.2009.11.005. Epub 2010 Jan 13.

PMID:
20071171
3.

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A.

Hum Mutat. 2005 Sep;26(3):279-80.

PMID:
16088906
4.

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.

Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP.

Mol Cell. 2000 Jan;5(1):141-51.

5.

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).

Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM.

Hum Mol Genet. 1996 Dec;5(12):1953-61.

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