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
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author Nicolau, Stefan
Tracy, Jennifer A.
Pisapia, David J.
Tanji, Kurenai
Milone, Margherita
author_facet Nicolau, Stefan
Tracy, Jennifer A.
Pisapia, David J.
Tanji, Kurenai
Milone, Margherita
author_sort Nicolau, Stefan
collection PubMed
description 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.
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spelling pubmed-74630532020-09-03 GYG1: A distal myopathy with polyglucosan bodies Nicolau, Stefan Tracy, Jennifer A. Pisapia, David J. Tanji, Kurenai Milone, Margherita JIMD Rep Images in Metabolic Medicine 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. John Wiley & Sons, Inc. 2020-05-13 /pmc/articles/PMC7463053/ /pubmed/32905144 http://dx.doi.org/10.1002/jmd2.12129 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Images in Metabolic Medicine
Nicolau, Stefan
Tracy, Jennifer A.
Pisapia, David J.
Tanji, Kurenai
Milone, Margherita
GYG1: A distal myopathy with polyglucosan bodies
title GYG1: A distal myopathy with polyglucosan bodies
title_full GYG1: A distal myopathy with polyglucosan bodies
title_fullStr GYG1: A distal myopathy with polyglucosan bodies
title_full_unstemmed GYG1: A distal myopathy with polyglucosan bodies
title_short GYG1: A distal myopathy with polyglucosan bodies
title_sort gyg1: a distal myopathy with polyglucosan bodies
topic Images in Metabolic Medicine
url 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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AT tanjikurenai gyg1adistalmyopathywithpolyglucosanbodies
AT milonemargherita gyg1adistalmyopathywithpolyglucosanbodies

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