Citations 1
GYG1: A distal myopathy with polyglucosan bodies
Nicolau, Stefan , Tracy, Jennifer A., Pisapia, David J. , Tanji, Kurenai , Milone, Margherita , Nicolau, Stefan
JIMD Reports | May 14, 2020 | Volume: 55 | Issue: 1 | Pages: 88-90
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.