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GENATLAS PHENOTYPE
last update : 31-08-2010
Symbol MTENC2
Location mt
Name mitochondrial encephalopathy type Leigh syndrome, 2
Corresponding gene MT-ND3 , MT-ND5 , MT-ND6
Main clinical features
  • early-onset progressive neurodegenerative disorder with focal, bilateral lesions in one or more areas of the central nervous system, includingthe brainstem, thalamus, basal ganglia, cerebellum, and spinal cord
  • lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation
  • the most common underlying cause is a defect in oxidative phosphorylation
    • Genetic determination mitochondrial
    Related entries . including specific defect in complex 1 activity in the muscle with optic atrophy, ataxia, facial weakness or Leigh-like syndrome with selective involvement of the medulla oblongata and sparing the basal ganglia
    Function/system disorder neurology
    Type MCA/MR
    Gene product
    Name . tRNA W(Trp) (nt 5537) ; NADH dehydrogenase subunit ND5 (TI27066) or (G13513A) ; NADH dehydrogenase subunit ND6 (T14487C) ; NADH dehydrogenase subunit ND3 (T10158C), (G10197A), (T10191C)
    Remark(s)
    Genotype/Phenotype correlations G13513A most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White ; infantile Leigh syndrome due to a maternally transmitted T10191C