A novel variant of RBCK1 gene causes mild polyglucosan myopathy

Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this gene in the pathophysiology of the disorder at the mol...

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Detalles Bibliográficos
Autores principales: AlAnzi, Talal, Al Harbi, Fahad, AlGhamdi, AbdulAziz, Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037568/
https://www.ncbi.nlm.nih.gov/pubmed/35017290
http://dx.doi.org/10.17712/nsj.2022.1.20210681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9037568/
https://www.ncbi.nlm.nih.gov/pubmed/35017290
http://dx.doi.org/10.17712/nsj.2022.1.20210681

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