Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive disorder characterized by enlarged mitochondria located mainly at the periphery of muscle fibers and caused by mutations in the Choline Kinase Beta (CHKB) gene. Although the pathogenesis of this disease is not well understo...

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Detalles Bibliográficos
Autores principales: Aksu-Menges, Evrim, Eylem, Cemil Can, Nemutlu, Emirhan, Gizer, Merve, Korkusuz, Petek, Topaloglu, Haluk, Talim, Beril, Balci-Hayta, Burcu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8438035/
https://www.ncbi.nlm.nih.gov/pubmed/34518586
http://dx.doi.org/10.1038/s41598-021-97294-4

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