Article
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Neurology - 24 Jul 2001
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers S M, Oeltjen J, Brown H E, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn R J, Urtizberea J A, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann J S, Brown R H
Abstract excerpt
OBJECTIVE: Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutat...
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