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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (MC1DN17)
NDUFAF6
618239
OMIM = Online Mendelian Inheritance of Men
255241
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
8q22.1
G31.8
very rare
autosomal recessive
mutation in the NDUFAF6 gene
Laboratory findings    L-Lactic acid inc (serum)
Symptoms    ataxia
    developmental delay
    dysarthria
    dystonia
    gait disturbance
    hypotonia
    lactic acidosis
    MRI, brain, abnormalities [-]
    muscle atrophy
    onset, childhood
    onset, infancy
    scoliosis
    seizures
    white matter changes, abnormalities