Articulo
A Novel Mechanism Causing Imbalance Of Mitochondrial Fusion And Fission In Human Myopathies
Human Molecular Genetics
Registro en:
1150677
1150677
Autor
Bartsakoulia, Marina
Pyle, Angela
Troncoso-Chandia, Diego
Vial-Brizzi, Josefa
Paz-Fiblas, Marysol V
Duff, Jennifer
Griffin, Helen
Boczonadi, Veronika
Lochmueller, Hanns
Kleinle, Stephanie
Institución
Resumen
Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here, we describe a 15-year-old boy with a novel disease caused by altered mitochondrial dynamics. The patient w Regular FONDECYT FONDECYT