Abstract：
Myofibrillar myopathies (MFMs) are a group of genetically heterogeneous diseases affecting the skeletal and cardiac muscles. Myofibrillar myopathies are characterized by focal lysis of myogenic fibers and integration of degraded myogenic fiber products into inclusion bodies, which are typically rich in desmin and many other proteins. Herein, we report a case of a 54-year-old woman who experienced bilateral thigh weakness for over three years. She was diagnosed with MFMs based on muscle biopsy findings and the presence of a novel mutation in exon 8 of the LDB3 gene. Myofibrillar myopathies caused by a mutation in the LDB3 gene are extremely uncommon and often lack distinct clinical characteristics and typically exhibit a slow disease progression. When considering a diagnosis of MFMs, particularly in complex instances of autosomal dominant myopathies where muscle biopsies do not clearly indicate MFMs, it becomes crucial for clinicians to utilize genetic test as a diagnostic tool.
摘要：
肌原纤维肌病（MFM）是一组影响骨骼肌和心肌的遗传异质性疾病。肌原纤维性肌病的特征是肌源性纤维的局灶性溶解和降解的肌源性纤维产物整合到包涵体中，通常富含desmin和许多其他蛋白质。在这里，我们报告了一例54岁女性，她的双侧大腿无力超过3年。根据肌肉活检结果和LDB3基因外显子8中存在新的突变，她被诊断为MFM。由LDB3基因突变引起的肌原纤维性肌病是非常罕见的,并且通常缺乏不同的临床特征,并且通常表现出缓慢的疾病进展。当考虑对MFM进行诊断时，特别是在复杂的常染色体显性肌病的情况下，肌肉活检不能明确显示MFM，临床医生利用基因检测作为诊断工具变得至关重要。
