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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 (MC1DN7)
NDUFV2
618229
OMIM = Online Medalian Inheritance of Men
2609
18p11.22
very rare
autosomal recessive
mutation in the NDUFV2 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
developmental regression
early death
encephalopathy
failure to thrive
hypertonia, spasticity
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
nystagmus
onset, infancy
optic atrophy
psychomotor retardation
seizures
laboratory finding
L-Lactic acid mmol/lserum
Literature