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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.
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7463053/ https://ncbi.nlm.nih.gov/pubmed/32905144 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12129 |
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