GYG1: A distal myopathy with polyglucosan bodies

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.

Detalles Bibliográficos
Autores principales: Nicolau, Stefan, Tracy, Jennifer A., Pisapia, David J., Tanji, Kurenai, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Images in Metabolic Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463053/
https://www.ncbi.nlm.nih.gov/pubmed/32905144
http://dx.doi.org/10.1002/jmd2.12129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463053/
https://www.ncbi.nlm.nih.gov/pubmed/32905144
http://dx.doi.org/10.1002/jmd2.12129

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