Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

OBJECTIVE: To identify the gene mutation of tubular aggregate myopathy (TAM) and gain mechanistic insight into the pathogenesis of the disorder. METHODS: We described a family affected by autosomal dominant TAM and performed exome and Sanger sequencing to identify mutations. We further analyzed the...

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Publicat a:Neurol Genet
Autors principals: Okuma, Hidehiko, Saito, Fumiaki, Mitsui, Jun, Hara, Yuji, Hatanaka, Yuki, Ikeda, Miki, Shimizu, Teruo, Matsumura, Kiichiro, Shimizu, Jun, Tsuji, Shoji, Sonoo, Masahiro
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817897/
https://ncbi.nlm.nih.gov/pubmed/27066587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000050
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