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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, ? (COQ10D?)
C-METHYLTRANSFERASE DEFICIENCY (COQ5)
616359
OMIM = Online Medalian Inheritance of Men
12q24.31
very rare (new disease)
symptoms
ataxia
cognitive impairment
encephalopathy
seizures
laboratory finding
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Casey JP,et al.Identification of a mutation in LARS as a novel cause of infantile hepatopathyMol Genet Metab1063351-3582012
Garcia-Gonzalez MA,et al.Erratum: A suppressor locus for MODY3-diabetesSci Rep. 2016 Oct 216:35697.60356972016
Wang D,De Vivo DPyruvate Carboxylase DeficiencyGeneReviews-« Internet001993-20172009