Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 year-old man with limb-girdle muscle weakness...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Lefeuvre, Claire, Schaeffer, Stéphane, Carlier, Robert-Yves, Fournier, Maxime, Chapon, Françoise, Biancalana, Valérie, Nicolas, Guillaume, Malfatti, Edoardo, Laforêt, Pascal
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2020
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7251390/
https://ncbi.nlm.nih.gov/pubmed/32477874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100597
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