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GENATLAS PHENOTYPE
last update : 14-01-2009
Symbol MTENC3
Location mt
Name mitochondrial encephalomyopathy 3
Corresponding gene MT-CO2
Main clinical features
  • encephalomyopathy, optic atrophy, pigmentary retinopathy,
  • and mild distal-muscle wasting, variable expression
    Genetic determination mitochondrial
    Function/system disorder neurology
    Type disease
    Gene product
    Name cytochrome C oxidase,subunit II,COXII,nt 7587 T->C mutation
    Remark(s)