Miyoshi肌病的临床特点及新的基因突变方式(附1例报告)  

Clinical features and novel gene mutation patterns of Miyoshi myopathy(report of one case)

作　　者：李欢 路爱军 胡怀强 曹秉振 王晓玲 LI Huan;LU Ai-jun;HU Huai-qiang(Department of Neurology,the 970th Hospital of the Joint Logistic Support Force of the People's Liberation Army,Yantai 264010,China)

机构地区：[1]中国人民解放军联勤保障部队第九七〇医院神经内科,烟台264010 [2]潍坊医学院研究生院 [3]中国人民解放军联勤保障部队第九六〇医院神经内科

出　　处：《临床神经病学杂志》2022年第5期383-387,共5页Journal of Clinical Neurology

摘　　要：目的探讨Miyoshi肌病的临床、病理及新的基因突变方式。方法回顾性分析1例Miyoshi肌病的临床资料。结果患者为23岁青年男性,主要临床特点为缓慢进展的下肢远端肌无力,伴有肌酸激酶升高,EMG呈肌源性损害,肌肉病理可见肌细胞轻度萎缩、坏死,免疫组化染色显示dysferlin蛋白缺失。双下肢肌肉MRI可见小腿后肌群萎缩及肌间质脂肪浸润。基因检测发现DYSF基因存在复合杂合突变(一条染色体为c.1176_1180+3dupGCAGAGTG,另外一条染色体2-41号外显子重复突变)。结论Miyoshi肌病是由DYSF基因突变导致的罕见肌病,了解其临床、病理及基因突变特点有助于疾病的诊断。Objective To investigate the clinical,pathological features and novel gene mutation patterns of Miyoshi myopathy.Methods The clinical data of a Miyoshi myopathy patient was analyzed retrospectively.ResultsThe 23-year-old male patient presented slow progressive distal limbs myasthenia with elevated serum creatine kinase.Electromyography showed myogenic damage.Myopathology showed mild atrophy and necrosis of muscle cells.Immunohistochemical analysis showed complete absence of dysferlin expression.Muscle MRI showed posterior lower legs atrophy and fatty infiltration of interstitial tissue.Gene analysis showed anovelcompound heterozygous mutation of DYSF gene(c.1176_1180+3 dupGCAGAGTG in one chromosome and a duplicate mutation in exon 2-41 in the other chromosome).Conclusions Miyoshi myopathy is a rare myopathy caused by DYSF gene mutation.Understanding the clinical,pathological and genetic characteristics of Miyoshi myopathy is helpful for the diagnosis of the disease.

关 键 词：MIYOSHI肌病 远端型肌病 病理学 DYSF基因 

分 类 号：R746[医药卫生—神经病学与精神病学]