Clinical,muscle pathology and molecular genetic analysis of myofibrillar myopathy 3 associated with MYOT gene mutation

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摘要 Objective To analyze the clinical phenotypic characteristics,muscle pathology,genetic mutations and related proteins of myofibrillar myopathy 3 caused by mutation in MYOT gene,and to conduct a literature review and summary of this disease.Methods A retrospective analysis of the clinical phenotypic characteristics.

作者杨桂冠 YANG Guiguan(Dept Neurol,Qilu Hosp,Shandong Univ,Jinan 250012)

机构地区 Dept Neurol

出处《China Medical Abstracts(Internal Medicine)》 2024年第1期62-62,共1页 中国医学文摘（内科学分册（英文版）

关键词 PATHOLOGY CLINICAL MYOPATHY

分类号 R746 [医药卫生—神经病学与精神病学]

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China Medical Abstracts(Internal Medicine)

2024年第1期

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Clinical,muscle pathology and molecular genetic analysis of myofibrillar myopathy 3 associated with MYOT gene mutation

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