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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
McArdle disease is a rare autosomal recessive disorder caused by mutations in the PYGM gene. This gene encodes for the skeletal muscle isoform of glycogen phosphorylase (myophosphorylase), the first enzyme in glycogenolysis. Patients with this disorder are unable to obtain energy from their glycogen...
Autores principales: | Ortuño-Costela, María del Carmen, Cerrada, Victoria, Moreno-Izquierdo, Ana, García-Consuegra, Inés, Laberthonnière, Camille, Delourme, Mégane, Garesse, Rafael, Arenas, Joaquín, Fuster García, Carla, García García, Gema, Millán, José María, Magdinier, Frédérique, Gallardo, María Esther |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692531/ https://www.ncbi.nlm.nih.gov/pubmed/36430443 http://dx.doi.org/10.3390/ijms232213964 |
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