A novel NDUFA1 mutation leads to a progressive mitochondrial complex I- specific neurodegenerative disease

Mitochondrial diseases have been shown to result from mutations in mitochondrial genes located in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Mitochondrial OXPHOS complex I has 45 subunits encoded by 38 nuclear and 7 mitochondrial genes. Two male patients in a putative X-linked pedig...

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Main Authors: Potluri, Prasanth, Davila, Antonio, Ruiz-Pesini, Eduardo, Mishmar, Dan, O'Hearn, Sean, Hancock, Saege, Simon, Mariella, Scheffler, Immo, Wallace, Douglas C., Procaccio, Vincent
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2693342/
https://ncbi.nlm.nih.gov/pubmed/19185523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.12.004
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