… disease, is a novel cause of coenzyme Q10 deficiency. We report a homozygous nonsense
mutation … with neonatalonset lactic acidosis and multisystem disease. To our knowledge, this …

… First, it was not found at MITOMAP, a human mitochondrial genome database (http://… or
mitochondrial disease controls. Second, in the only affected tissue, skeletal muscle, the mutation …

… nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX)
in a patient with early-onset multisystem disease … with other mitochondrial diseases, with …

… The great majority (92.5% overall) of the mutated alleles in various populations are missense
mutations, while frameshift and nonsense mutations account for a small fraction (7.5%) of …

… Mitochondrial diseases can be caused by genetic defects in the nuclear DNA (nDNA) genes
that encode mitochondrial proteins or the mtDNA, which encodes core energetic proteins …

… Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but …
complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection. …

… proportion of mutant mtDNAs among them may vary. Mitochondrial disease occurs when a
minimum critical number of mutant mtDNAs is reached, causing mitochondrial dysfunction in …

… the mitochondrial network in control, nonsense mutant (p.Q456X) and missense (p.V170G) …
DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease …

… of several factors involved in mitochondrial disorders is not, … nuclear genes that cause
mitochondrial disease phenotypes, … families characterized by mitochondrial recessive traits. The …

… We have identified a nonsense mutation (G5920A) in the COX I gene of muscle mtDNA in
a 34-year-old man with life-long exercise intolerance and recurrent myoglobinuria induced by …