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Identification and evaluation of novel therapeutics for myotubular myopathy

Identification and evaluation of novel therapeutics for myotubular myopathy
肌管肌病新疗法的鉴定和评估
批准号：
331538
负责人：
Volpatti Jonathan
金额：
$1.27万
依托单位：
University of Toronto
依托单位国家：
加拿大
项目类别：
Studentship Programs
财政年份：
2014
资助国家：
加拿大
项目状态：
已结题
起止时间：
2014-12-01 至 2015-12-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=331538&lang=en
关键词：
Animal Models Of Disease Centronuclear Myopathy Chemical And Genetic Screens Congenital Disorder Drug Discovery Myotubular Myopathy Phosphatidylinositol 3-Phosphate Phosphoinositide Signalling Rare Disease Translational Research

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英文摘要
Myotubular myopathy is a rare disorder affecting skeletal muscle that is caused by mutations in the gene MTM1 . Affected individuals are predominantly male who present with severe phenotypes at birth such as hypotonia, respiratory insufficiency, and high
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