TY - JOUR
T1 - X-linked myopathy with excessive autophagy
T2 - First report of an Israeli family presenting with late onset lower limb girdle weakness
AU - Alon, Tayir
AU - Sadeh, Menachem
AU - Lev, Dorit
AU - Dabby, Ron
N1 - Publisher Copyright:
© 2021 Elsevier B.V.
PY - 2021/9
Y1 - 2021/9
N2 - 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.
AB - 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.
KW - Autophagy
KW - Skeletal Muscle
KW - VMA21
KW - X-linked myopathy
KW - XMEA
UR - http://www.scopus.com/inward/record.url?scp=85112493359&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2021.06.013
DO - 10.1016/j.nmd.2021.06.013
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C2 - 34404574
AN - SCOPUS:85112493359
SN - 0960-8966
VL - 31
SP - 854
EP - 858
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 9
ER -