Glycogen Debrancher Enzyme Deficiency Myopathy.
Journal
Journal of clinical neuromuscular disease
ISSN: 1537-1611
Titre abrégé: J Clin Neuromuscul Dis
Pays: United States
ID NLM: 100887391
Informations de publication
Date de publication:
01 Jun 2021
01 Jun 2021
Historique:
entrez:
21
5
2021
pubmed:
22
5
2021
medline:
16
11
2021
Statut:
ppublish
Résumé
Glycogen storage disease type III is a rare inherited disease caused by decreased activity of glycogen debranching enzyme. It affects primarily the liver, cardiac muscle, and skeletal muscle. Pure involvement of the skeletal muscle with adult onset is extremely rare. We report on a patient with myopathy due to glycogen storage disease III, and describe the clinical features, and pathologic and genetic findings.
Identifiants
pubmed: 34019008
doi: 10.1097/CND.0000000000000339
pii: 00131402-202106000-00007
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
224-227Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
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