Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-010-0119-1.pdf
Reference46 articles.
1. Richard I, Broux O, Allamand V, et al.: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81(1):27–40.
2. Chou FL, Angelini C, Daentl D, et al.: Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology 1999, 52(5):1015–1020.
3. Richard I, Roudaut C, Saenz A, et al.: Calpainopathy—a survey of mutations and polymorphisms. Am J Hum Genet 1999, 64(6):1524–1540.
4. Liu J, Aoki M, Illa I, et al.: Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998, 20(1):31–36.
5. Bashir R, Britton S, Strachan T, et al.: A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998, 20(1):37–42.
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