Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China

BACKGROUND: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene. PGBM1 has been reported in only 14 European and American families, and no...

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Detalles Bibliográficos
Autores principales: Chen, Lin, Wang, Nan, Hu, Wenbin, Yu, Xuen, Yang, Renming, Han, Yongzhu, Yan, Yan, Nian, Na, Sha, Congbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789478/
https://www.ncbi.nlm.nih.gov/pubmed/33413275
http://dx.doi.org/10.1186/s12891-020-03884-0

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