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

Tayir Alon*, Menachem Sadeh, Dorit Lev, Ron Dabby

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)854-858
Number of pages5
JournalNeuromuscular Disorders
Volume31
Issue number9
DOIs
StatePublished - Sep 2021

Keywords

  • Autophagy
  • Skeletal Muscle
  • VMA21
  • X-linked myopathy
  • XMEA

Fingerprint

Dive into the research topics of 'X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness'. Together they form a unique fingerprint.

Cite this