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Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease

PURPOSE OF REVIEW: Primary Mitochondrial Disease (PMD) are a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial oxidative phosphorylation (OXPHOS) capacity. Mutations in more than 350 genes in both mitochondrial and nuclear genomes...

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Detalhes bibliográficos
Publicado no:Curr Opin Pediatr
Main Authors: McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Falk, Marni J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467265/
https://ncbi.nlm.nih.gov/pubmed/30199403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000686
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