常染色体隐性遗传肌原纤维肌病的临床和病理学特点(附1例报告)

目的 探讨常染色体隐性遗传的肌原纤维肌病(MFMs)的临床和病理学特点.方法 回顾性分析1例病理确诊的常染色体隐性遗传MFMs患者的临床资料.结果 本例7岁起病,表现为四肢无力,缓慢进行性加重,由近端向远端发展,伴有心脏损害.其父母为近亲婚配,其兄自幼年出现相似的肌无力,38岁时猝死.肌肉病理检查示肌纤维空泡性改变,以非镶边空泡为主,部分肌纤维内出现结蛋白沉积;未发现结蛋白基因、αB晶体蛋白基因及肌收缩蛋白基因突变.结论 常染色体隐性遗传MFMs可幼年期发病,四肢无力由近端向远端发展,累及心肌;病理学特点为肌纤维空泡性改变和结蛋白沉积.

Clinical and pathological features of autosomal ressesive inherited myofibrillar myopathy (report of 1 case)

Objective To explore the clinical and pathological features of autosomal recessive(AR) inherited myofibrillar myopathy(MFMs).Methods The clinical data of a AR inherited MFMs patient diagnosed by pathological detection were analyzed retrospectively.Results This case was onset at 7 years old.Her manifestation was weakness of limbs,and slowly progressive,from proximal to distal,combined with cardiomyopathy.Her parents were consanguineous marriage.Her old brother had almost same weakness of limbs since infancy ...