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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 (MC1DN14)
NDUFA11
618236
OMIM = Online Medalian Inheritance of Men
2609
19p13p3
rare
autosomal recessiv
mutation in the NDUFA11 gene
symptoms
apnea
cardiomyopathy
cardiomyopathy, hypertrophic
developmental delay
early death
encephalopathy
hypotonia
lactic acidosis
metabolic acidosis
microcephaly (<2 SD for age)
myopathy
nystagmus
onset, childhood
onset, infancy
optic atrophy
seizures
laboratory finding
L-Lactic acid mmol/lblood
Literature
Sun M,et al.Genetic heterogeneity in patients with Bartter syndrome type 1Mol Med Rep152581-5902017
Breinbjerg A,et al.A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndromeActa Paediatr1061161-1672017