A patient with myofibrillar myopathy caused by BAG3 gene mutation

VernacularTitle:BAG3基因突变所致肌原纤维肌病一例
Author: Yutong ZHANG ; Huifang WANG ; Rui BAN ; Huaxu LIU ; Miaomiao WEI ; Haiwen SONG ; Qiang SHI ; Chuanqiang PU
Keywords: Muscular diseases; Myofibrils; BAG3 gene
From: Chinese Journal of Neurology 2017;50(9):671-675
CountryChina
Language:Chinese
Abstract: Objective To study the clinical,pathological and genetic features of myofibrillar myopathy caused by BAG3 gene mutation.Methods The clinical features and pathological findings of a patient with myofibrillar myopathy were analyzed.Genomic DNA of the patient was extracted from peripheral blood and the next generation sequencing was performed to explore the mutation of genes about myopathies.Results The patient presented with nine-year-old onset myopathy characterized by progressive difficulty for squatting,rigid spine and muscle atrophy in the limbs symmetrically.Peripheral neurogenic damages were found on electromyography.On muscle biopsy,myogenic and neurogenic damages with rimmed vacuoles appeared,and the deposited materials were positive for sarcoglycan,dystrophin-R and dystrophin-C.There was a reported heterozygous mutation in the exons of the BAG3 gene (c.626C ＞ T).Conclusion There is no specificity of clinical manifestation in myofibrillar myopathy,and the diagnosis of this disease mainly depends on muscle biopsy and genetic screening.