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.
- distal myopathy
- glycogen storage disease
- polyglucosan body
ASJC Scopus subject areas
- Internal Medicine
- Endocrinology, Diabetes and Metabolism
- Biochemistry, Genetics and Molecular Biology (miscellaneous)