Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

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 dy...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Neuromuscular
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595148/
https://www.ncbi.nlm.nih.gov/pubmed/23243261
http://dx.doi.org/10.1136/jnnp-2011-301339

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