Article
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
Journal of the neurological sciences - 15 Jul 2003
Tagawa Kazuhiko, Ogawa Megumu, Kawabe Kiyokazu, Yamanaka Gaku, Matsumura Tsuyoshi, Goto Kanako, Nonaka Ikuya, Nishino Ichizo, Hayashi Yukiko K
Abstract excerpt
Mutations in the dysferlin gene cause muscular dystrophies called dysferlinopathy, which include limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). To clarify the frequency, clinicopathological and genetic features of dysferlinopathy in Japan, we performed protein and gene analyses of dysferlin. We examined a total of 107 unrelated Japanese patients, including 53 unclassified LGMD, 28 MM...
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