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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 (MC1DN2)
NDUFS8
618222
OMIM = Online Medalian Inheritance of Men
2609
9q33.2
rare
autosomal recessive

symptoms
apnea
cardiomyopathy
cardiomyopathy, hypertrophic
defect of walking, running, rising or climbing
developmental delay
dysarthria
dyskinesia
dystonia
feeding difficulties, poor feeding
hyperreflexia
hypotonia
myopathy
nystagmus
onset, childhood
onset, infancy
ophthalmoplegia
respiratory insufficiency
seizures
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/mol Creacerebrospinal fluid
Literature
Gataullina S,Dulac OFrom genotype to phenotype in Dravet diseaseSeizure44058-642017
Kamiya K,et al.A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental declineJ Neurosci24112690-26982004
Al-Baradie RSDravet syndrome, what is new?Neurosciences (Riyadh)18111-172013
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