Article
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2013
Takahashi Toshiaki, Aoki Masashi, Suzuki Naoki, Tateyama Maki, Yaginuma Chikako, Sato Hitomi, Hayasaka Miho, Sugawara Hitomi, Ito Mariko, Abe-Kondo Emi, Shimakura Naoko, Ibi Tohru, Kuru Satoshi, Wakayama Tadashi, Sobue Gen, Fujii Naoki, Saito Toshio, Matsumura Tsuyoshi, Funakawa Itaru, Mukai Eiichiro, Kawanami Toru, Morita Mitsuya, Yamazaki Mineo, Hasegawa Takashi, Shimizu Jun, Tsuji Shoji, Kuzuhara Shigeki, Tanaka Hiroyasu, Yoshioka Masaru, Konno Hidehiko, Onodera Hiroshi, Itoyama Yasuto
Abstract excerpt
OBJECTIVE AND METHODS: Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. RESULTS AND CONCLUSIONS: Three mutations (c.1566C>G, c.2997G>T and c.4497delT)...
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