GYG1: A distal myopathy with polyglucosan bodies
GYG1: A distal myopathy with polyglucosan bodies
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Scope and Contents
Contents
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.
Alternative Titles
Full title
GYG1: A distal myopathy with polyglucosan bodies
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TN_cdi_doaj_primary_oai_doaj_org_article_90efa63d2b264523a98abef4b8d1fc61
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_90efa63d2b264523a98abef4b8d1fc61
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12129
