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last update : 02-05-2013
Symbol CMTND7
Location 8q22.1
Name mitochondrial complex 1 deficiency
Corresponding gene NDUFAF6
Main clinical features
  • in infancy focal seizures, decreased movement and strength, ataxia, lactic acidosis, and neuroimaging consistent with Leigh syndrome
  • biochemical studies showed complex I deficiency in liver, muscle, and fibroblasts
  • at the cerebral MRI, presence of striatal anomalies (PMID: 20972245))
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease