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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) MTDPS14
616896
OMIM = Online Medalian Inheritance of Men
---
3q29
very rare
mutation in the OPA1 gene
symptoms
apnea
cardiomyopathy
cardiomyopathy, hypertrophic
early death
encephalopathy
failure to thrive
hearing defect, deafness
hypertonia, spasticity
hypotonia
muscle weakness
onset, infancy
onset, neonatal
optic atrophy
laboratory finding
Alanine +€mol/lplasma
L-Lactic acid mmol/lblood
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Suzuki Y,et al.Mutations in the holocarboxylase synthetase gene HLCSHum Mutat264285-2902005