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.
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| Format: | Article |
| Language: | English |
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Wiley
2020-09-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12129 |
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Article |
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doaj-90efa63d2b264523a98abef4b8d1fc612020-11-25T03:53:22ZengWileyJIMD Reports2192-83122020-09-01551889010.1002/jmd2.12129GYG1: A distal myopathy with polyglucosan bodiesStefan Nicolau0Jennifer A. Tracy1David J. Pisapia2Kurenai Tanji3Margherita Milone4Department of Neurology Mayo Clinic Rochester Minnesota USADepartment of Neurology Mayo Clinic Rochester Minnesota USADepartment of Pathology Weill Cornell Medical Center New York New York USADepartment of Pathology and Cell Biology Columbia University Medical Center New York New York USADepartment of Neurology Mayo Clinic Rochester Minnesota USAAbstract 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.https://doi.org/10.1002/jmd2.12129distal myopathyglycogen storage diseaseglycogenin‐1polyglucosan body |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Stefan Nicolau Jennifer A. Tracy David J. Pisapia Kurenai Tanji Margherita Milone |
| spellingShingle |
Stefan Nicolau Jennifer A. Tracy David J. Pisapia Kurenai Tanji Margherita Milone GYG1: A distal myopathy with polyglucosan bodies JIMD Reports distal myopathy glycogen storage disease glycogenin‐1 polyglucosan body |
| author_facet |
Stefan Nicolau Jennifer A. Tracy David J. Pisapia Kurenai Tanji Margherita Milone |
| author_sort |
Stefan Nicolau |
| title |
GYG1: A distal myopathy with polyglucosan bodies |
| title_short |
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_sort |
gyg1: a distal myopathy with polyglucosan bodies |
| publisher |
Wiley |
| series |
JIMD Reports |
| issn |
2192-8312 |
| publishDate |
2020-09-01 |
| description |
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. |
| topic |
distal myopathy glycogen storage disease glycogenin‐1 polyglucosan body |
| url |
https://doi.org/10.1002/jmd2.12129 |
| work_keys_str_mv |
AT stefannicolau gyg1adistalmyopathywithpolyglucosanbodies AT jenniferatracy gyg1adistalmyopathywithpolyglucosanbodies AT davidjpisapia gyg1adistalmyopathywithpolyglucosanbodies AT kurenaitanji gyg1adistalmyopathywithpolyglucosanbodies AT margheritamilone gyg1adistalmyopathywithpolyglucosanbodies |
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1724478453187608576 |