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.

X 连锁肌病伴过度自噬 (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中过度自噬空泡的独特病理学。在这里，我们报告了一个家庭中的五名下肢近端无力的患者。先证者为 25 岁男性，出现 5 年进行性下肢近端肌无力。他的外祖父和他的三个外祖父有相似的临床表现，最初被怀疑患有贝克尔肌营养不良症。两名受累家庭成员的肌肉活检显示自噬性肌病，并指导遗传学研究确定致病突变，c.272G >  C在 VMA21 基因中，已知会导致 XMEA [1]。据我们所知，这是第一个被 XMEA 折磨的以色列犹太家庭。