Features Of Dysferlin Mutations In Japan

Toshiaki Takahashi,Naoki Suzuki, R. Izumi, C. Yaginuma,N. Shimakura,H. Ono, Y. Shimosegawa,Y. Sugimura, S. Taniguchi,H. Oizumi,H. Tanaka,Masaru Yoshioka,A. Takeda,Y. Aoki,Masashi Aoki

JOURNAL OF THE NEUROLOGICAL SCIENCES（2017）

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摘要

Background: Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). It has 55 exons and 6,243 base pair nucleotides in an open reading frame predicted to encode 2,080 amino acids. Dysferlin deficiency lead to two main phenotypes, Miyoshi muscular dystrophy (MMD) and limb-girdle muscular dystrophy (LGMD) 2B.

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dysferlin mutations

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