Article
[Recent advances in limb-girdle muscular dystrophy research].
Rinsho shinkeigaku = Clinical neurology - 1 Dec 2001
Nonaka I, Minami N, Chae J, Hayashi Y K, Nishino I, Arahata K
Abstract excerpt
In our laboratory, limb-girdle muscular dystrophy (LGMD) accounted for 20% of all patients with muscular dystrophy. To determine the incidence of various forms of LGMD phenotypes, we looked for mutations in the calpain 3 gene and, for deficiencies in dysferlin and sarcoglycan by immunohistochemical studies with specific antibodies on muscle biopsies from patients with probable autosomal recessive inheritance...
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