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Abstract：
X-linked myopathy with excessive autophagy (XMEA) is a rare disorder characterized by slow progressive muscle weakness and distinctive pathology of excessive autophagic vacuoles on muscle biopsy. Here we report on five patients, in a single family, with proximal lower limb weakness. The proband, a 25-year-old man, presented with 5 years of progressive lower limbs proximal muscle weakness. His maternal grandfather and three of his maternal male cousins had similar clinical findings and were initially suspected to have Becker muscular dystrophy. Muscle biopsy in two affected family members demonstrated autophagic myopathy, and guided the genetic investigations to the identification of a pathogenic mutation, c.272G > C in the VMA21 gene, known to cause XMEA [1]. To the best of our knowledge this is the first identified Israeli Jewish family afflicted by XMEA.
摘要：
具有过度自噬的X连锁肌病（XMEA）是一种罕见的疾病，其特征是缓慢进行性肌肉无力和肌肉活检上过度自噬空泡的独特病理。这里我们报道了五名患者，在一个家庭里,近端下肢无力。先证者，一个25岁的男人,表现为5年进行性下肢近端肌无力。他的外祖父和他的三个母系男性表亲也有类似的临床发现，最初被怀疑患有贝克尔肌营养不良症。两名受影响的家庭成员的肌肉活检显示自噬性肌病，并指导遗传研究以鉴定致病性突变，c.272G>VMA21基因中的C，已知导致XMEA[1]。据我们所知，这是第一个被XMEA折磨的以色列犹太家庭。
