Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
About this item
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Author / Creator
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 and Itoyama, Yasuto
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
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 concl...
Alternative Titles
Full title
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3595148
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3595148
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp-2011-301339
