GYG1: A distal myopathy with polyglucosan bodies. Issue 1 (13th May 2020)

• Record Type: Journal Article
• Authors: Nicolau, Stefan; Tracy, Jennifer A.; Pisapia, David J.; Tanji, Kurenai; Milone, Margherita
• Is Part Of: JIMD reports. Volume 55:Issue 1(2020)
• Page Start: 88
• Page End: 90
• Publication Date: 2020-05-13
• Subjects: distal myopathy -- glycogen storage disease -- glycogenin‐1 -- polyglucosan body; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12129
• Languages: English
• ISSNs: 2192-8304

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.