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Mutations in the β-myosin rod cause myosin storage myopathy via multiple mechanisms

Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of subsarcolemmal inclusions of myosin in the majority of type I muscle fibers, and has been linked to 4 mutations in the slow/cardiac muscle myosin, β-MyHC (MYH7). Although the majority of the >230 disease causi...

詳細記述

保存先:
書誌詳細
主要な著者: Armel, Thomas Z., Leinwand, Leslie A.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2669361/
https://ncbi.nlm.nih.gov/pubmed/19336582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0900107106
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