GYG1: A distal myopathy with polyglucosan bodies

GYG1: A distal myopathy with polyglucosan bodies

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.

Bibliographic Details
Main Authors: Stefan Nicolau, Jennifer A. Tracy, David J. Pisapia, Kurenai Tanji, Margherita Milone
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:JIMD Reports
Subjects:
distal myopathy
glycogen storage disease
glycogenin‐1
polyglucosan body
Online Access:https://doi.org/10.1002/jmd2.12129
Description
Summary: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.
ISSN:2192-8312

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