GYG1 : A distal myopathy with polyglucosan bodies
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:55 |
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| Enthalten in: |
JIMD reports - 55(2020), 1 vom: 25. Sept., Seite 88-90 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nicolau, Stefan [VerfasserIn] |
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| Links: |
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| Themen: |
Distal myopathy |
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| Anmerkungen: |
Date Revised 29.03.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1002/jmd2.12129 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM314777342 |
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| 520 | |a 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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| 650 | 4 | |a glycogen storage disease | |
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| 700 | 1 | |a Milone, Margherita |e verfasserin |4 aut | |
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