Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene

McArdle disease is a rare autosomal recessive condition caused by mutations in the PYGM gene. This gene encodes the skeletal muscle isoform of glycogen phosphorylase or myophosphorylase. Patients with McArdle disease have an inability to obtain energy from their muscle glycogen stores, which manifes...

Descripción completa

Detalles Bibliográficos
Autores principales: Cerrada, Victoria, García-Consuegra, Inés, Arenas, Joaquín, Gallardo, M. Esther
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525199/
https://www.ncbi.nlm.nih.gov/pubmed/37760875
http://dx.doi.org/10.3390/biomedicines11092434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10525199/
https://www.ncbi.nlm.nih.gov/pubmed/37760875
http://dx.doi.org/10.3390/biomedicines11092434

Ejemplares similares