GYG1: A distal myopathy with polyglucosan bodies

Abstract

Abstract Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the histological clues leading to its diagnosis.

Keywords

• distal myopathy
• glycogen storage disease
• glycogenin‐1
• polyglucosan body