A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

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 was the second child of consanguineous Jewish...

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Publicado en:Hum Mol Genet
Main Authors: Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2018
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6159537/
https://ncbi.nlm.nih.gov/pubmed/29361167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy033
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