Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy

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• 关键词：Diaphragm ; Nebulin ; Respiratory failure ; Nemaline myopathy
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：27
• 期：1
• 页码：83-89
• 全文大小：865 K
• 卷排序：27

文摘

Respiratory failure is the main cause of death in nemaline myopathy. Little is known regarding diaphragm contractility. We studied a mouse model which mimics a frequently observed mutation in NEB. Contractility of diaphragm muscle fibers of NebΔExon55 mice was severely reduced. Diaphragm weakness was not more pronounced than that of most peripheral muscles.