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

作　　者：杨桂冠 YANG Guiguan(Dept Neurol,Qilu Hosp,Shandong Univ,Jinan 250012)

机构地区：[1]Dept Neurol,Qilu Hosp,Shandong Univ,Jinan 250012

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）

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.

关 键 词：PATHOLOGY CLINICAL MYOPATHY 

分 类 号：R746[医药卫生—神经病学与精神病学]