Article
Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia.
Muscle & nerve - 1 Jan 2018
Chéraud Chrystel, Froissart Roseline, Lannes Béatrice, Echaniz-Laguna Andoni
Abstract excerpt
INTRODUCTION: McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. METHODS: We report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. RESULTS: Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness....
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