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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (MC1DN23)
NDUFA12
618244
OMIM = Online Medalian Inheritance of Men
255241
12q22
very rare
autosomal recessive
mutation in the NDUFA12 gene
symptoms
defect of walking, running, rising or climbing
developmental delay
dystonia
growth retardation, poor growth
hypertrichosis
learning disability
onset, childhood
scoliosis
white matter changes, abnormalities
laboratory finding
MRI, brain, abnormalities -
Literature
Merrill ST,et al.Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literatureOrphanet J Rare Dis1111692016
Ito T,et al.Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper stripsClin Chem464445-4522000