Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.
We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.
Horvath
J
J
Department of Neurology and Neurosciences, Geneva University Hospital, Switzerland. Judit.Horvath@hcuge.ch
Horvath
R
R
Karcagi
V
V
Komoly
S
S
Johns
D R
DR
D019943:Amino Acid Substitution; D003573:Cytochrome b Group / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D006814:Hungary; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
D003573:Cytochrome b Group; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV