GYG1: A distal myopathy with polyglucosan bodies

Stefan Nicolau, Jennifer A. Tracy, David J. Pisapia, Kurenai Tanji, Margherita Milone

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)88-90
Number of pages3
JournalJIMD Reports
Volume55
Issue number1
DOIs
StatePublished - Jan 1 2020

Keywords

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

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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