Liewluck Teerin, Kintarak Jutatip, Sangruchi Tumtip, Selcen Duygu, Kulkantrakorn Kongkiat
Department of Pathology and Neurogenetics Network, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
J Med Assoc Thai. 2009 Feb;92(2):290-5.
Myofibrillar myopathy (MFM) encompasses a genetically and clinically heterogeneous group of inherited or sporadic skeletal muscle disorders characterized pathologically by the presence of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins especially Z-disk related proteins. Patients with MFM initially present with muscle weakness and commonly developed cardiomypathy in the advanced stage. To date, mutations of genes encoding Z-disk proteins or proteins maintaining myofibrillar integrity including ZASP, MYOT, DES, FLNC and CRYAB underlie MFM. The authors herein report a 29-year-old Thai woman with a clinical diagnosis of autosomal dominant limb-girdle muscular dystrophy (LGMD1) who has one affected grandmother. The patient was subsequently found to have MFM based on her myopathological findings. Analyses of all MFM-genes known to date revealed no mutations. The current case emphasizes the importance of muscle biopsy in LGMD1 patients and a wide range of phenotypic variations among patients with MFM. The causative genes underlying the majority of MFM remain uncovered. Close monitoring of the cardiac function is crucial to prevent mortality among these patients.
肌原纤维肌病（MFM）是一组遗传和临床异质性的遗传性或散发性骨骼肌疾病，其病理特征为肌原纤维溶解，并伴有肌原纤维降解产物的积累以及多种蛋白质（尤其是与Z盘相关的蛋白质）的异位表达。MFM患者最初表现为肌肉无力，晚期通常会发展为心肌病。迄今为止，编码Z盘蛋白或维持肌原纤维完整性的蛋白质（包括ZASP、MYOT、DES、FLNC和CRYAB）的基因突变是MFM的病因。本文作者报告了一名29岁的泰国女性，临床诊断为常染色体显性遗传性肢带型肌营养不良症（LGMD1），其有一位患病的祖母。随后根据其肌肉病理检查结果发现该患者患有MFM。对目前已知的所有MFM相关基因进行分析后未发现突变。该病例强调了肌肉活检在LGMD1患者中的重要性，以及MFM患者之间存在广泛的表型变异。大多数MFM的致病基因仍未明确。密切监测心脏功能对于预防这些患者的死亡至关重要。
