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Article

X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness.

Neuromuscular disorders : NMD - 1 Sept 2021

Alon Tayir, Sadeh Menachem, Lev Dorit, Dabby Ron

Abstract excerpt

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...

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PMID: 34404574
DOI: 10.1016/j.nmd.2021.06.013

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