A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
P Potluri, A Davila, E Ruiz-Pesini, D Mishmar… - Molecular genetics and …, 2009 - Elsevier
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 for mutations in the
38 nDNA and seven mtDNA encoded complex I subunits. The nDNA X-linked NDUFA1 …
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 for mutations in the
38 nDNA and seven mtDNA encoded complex I subunits. The nDNA X-linked NDUFA1 …
