Article
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Molecular genetics and metabolism - 1 Apr 2009
Potluri Prasanth, Davila Antonio, Ruiz-Pesini Eduardo, Mishmar Dan, O'Hearn Sean, Hancock Saege, Simon Mariella, Scheffler Immo E, Wallace Douglas C, Procaccio Vincent
Abstract excerpt
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 pedigree exhibiting a progressive neurodegenerative disorder and a severe muscle complex I enzyme defect were analyzed...
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