Regulators of PI3P metabolism in skeletal muscle development and as modifiers of myotubular myopathy.

骨骼肌发育中 PI3P 代谢的调节剂和肌管肌病的调节剂。

• 批准号: 304703
• 负责人: Dowling James
• 金额: $ 33.66万
• 依托单位: Hospital for Sick Children (Toronto)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2014
• 资助国家: 加拿大
• 起止时间: 2014-03-01 至 2017-03-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=304703&lang=en
• 关键词: Congenital Myopathies; Human Muscle Disease; Myotubular Myopathy; Myotubularin; Phosphoinositides; Therapy Development

Myotubular myopathy (MTM) is a disorder characterized by low muscle tone and weakness. It is associated with profound disability and early lethality. MTM is one of several neurologic diseases where abnormalities in the metabolism of a group of lipids call

肌管性肌病（MTM）是一种以肌张力低和无力为特征的疾病。它与严重残疾和早期致命性有关。MTM是一组脂质代谢异常的几种神经系统疾病之一