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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

✍ Scribed by Brown, Robert H.; Liu, Jing; Aoki, Masashi; Illa, Isabel; Wu, Chenyan; Fardeau, Michel; Angelini, Corrado; Serrano, Carmen; Urtizberea, J. Andoni; Hentati, Faycal; Hamida, Mongi Ben; Bohlega, Saeed; Culper, Edward J.; Amato, Anthony A.; Bossie, Karen; Oeltjen, Joshua; Bejaoui, Khemissa; McKenna-Yasek, Diane; Hosler, Betsy A.; Schurr, Erwin; Arahata, Kiichi; de Jong, Pieter J.

Book ID: 109567916
Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 443 KB
Volume: 20
Category: Article
ISSN: 1061-4036
DOI: 10.1038/1682

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We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in