Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms.
Batandier
C
C
Laboratoire de Biochimie de l'ADN, EA 2943-MENRT-CEA, CHU Grenoble, France.
Picard
A
A
Tessier
N
N
Lunardi
J
J
D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000201:enzymology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013912:Threonine / Q000235:genetics
D004272:DNA, Mitochondrial; D013912:Threonine; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I; D000409:Alanine