Myofibrillar myopathy is a pathologically diagnosed myopathy encompassing a clinically and genetically heterogeneous group of myopathies that share common histopathologic features of dissolution of myofibrils, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins.¹ Patients with myofibrillar myopathy present with progressive proximal or distal predominant weakness at a variable age at onset, ranging from childhood to late adulthood. Cardiomyopathy and peripheral neuropathy are frequent extramuscular manifestations. To date, mutations in more than 10 genes underlie myopathies with myofibrillar pathology, most of which encodes Z disc–associated proteins or proteins involving in chaperon-assisted selective autophagy.¹

肌原纤维肌病是一种病理诊断的肌病，包括一组临床和遗传异质性肌病，这些肌病具有肌原纤维溶解、肌原纤维降解产物积累和多种蛋白质异位表达等共同组织病理学特征。¹肌原纤维肌病患者在不同的发病年龄（从儿童期到成年后期）表现为进行性近端或远端主要肌无力。心肌病和周围神经病是常见的肌外表现。迄今为止，超过 10 个基因的突变是肌原纤维病理的肌病的基础，其中大部分编码 Z 盘相关蛋白或参与伴侣辅助选择性自噬的蛋白。¹