Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy

Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies from slowly progressive to fulminant. This va...

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Detalhes bibliográficos
Publicado no:Cell Metab
Main Authors: McManus, Meagan J., Picard, Martin, Chen, Hsiao-Wen, De Haas, Hans J., Potluri, Prasanth, Leipzig, Jeremy, Towheed, Atif, Angelin, Alessia, Sengupta, Partho, Morrow, Ryan M., Kauffman, Brett A., Vermulst, Marc, Narula, Jagat, Wallace, Douglas C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6717513/
https://ncbi.nlm.nih.gov/pubmed/30174309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cmet.2018.08.002
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