Citations 1

GYG1: A distal myopathy with polyglucosan bodies

JIMD Reports | May 14, 2020 | Volume: 55 | Issue: 1 | Pages: 88-90

10.1002/jmd2.12129 | PMID 32905144

AbstractMutations 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.