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Abstract：
Introduction VMA21 -related myopathy is one of the rare forms of slowly progressive myopathy observed in males. Till now, there have been only a handful of reports, mainly from Europe and America, and two reports from India. Method Here, we describe a case of genetically confirmed VMA21 -associated myopathy with clinical, histopathological, and imaging features with a list of known VMA21 mutations. Results A 29-year-old man had the onset of symptoms at 18 years of age with features of proximal lower limb weakness. Muscle magnetic resonance imaging showed the preferential involvement of vasti and adductor magnus. A biopsy of the left quadriceps femoris showed features of autophagic vacuolar myopathy with vacuoles containing granular eosinophilic materials. In targeted next-generation sequencing, hemizygous mutation in the 3\' splice site of intron 2 of the VMA21 gene (c.164-7 T > A) was identified and confirmed the diagnosis of X-linked myopathy with excessive autophagy. Conclusion This report expands the phenotypic and genotypic profile of VMA21 -related myopathy, with a yet unreported mutation in India.
摘要：
引言VMA21相关肌病是在男性中观察到的缓慢进行性肌病的罕见形式之一。到现在为止,只有少数报道，主要来自欧洲和美国，还有两份来自印度的报告.方法在这里，我们描述了一例遗传证实的VMA21相关肌病的临床，组织病理学,和具有已知VMA21突变列表的成像特征。结果一名29岁男性在18岁时出现症状，并表现为近端下肢无力。肌肉磁共振成像显示vasti和内收肌的优先受累。左股四头肌活检显示自噬性空泡性肌病，空泡中含有颗粒状嗜酸性物质。在靶向下一代测序中，鉴定了VMA21基因内含子2的3'剪接位点的半合子突变（c.164-7T>A），并证实了X连锁肌病伴过度自噬的诊断。结论本报告扩展了VMA21相关肌病的表型和基因型。在印度有一个尚未报告的突变。
