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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 6 (COQ10D6)
614650
OMIM = Online Medalian Inheritance of Men
280406
14q24.3
rare
autosomal recessive
mutation in the COQ6 gene
symptoms
ataxia
dysmorphism
hearing defect, deafness
heart involvement
mental retardation
motor retardation
nephrotic syndrome
onset, childhood
onset, infancy
proteinuria
ptosis (drooping eyelid)
renal failure, acute/chronic
seizures
laboratory finding
Albumin decreasedserum
Literature
Bishay RH,Greenfield JRA review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODYMed J Aust20510480-4852016
Gohar NA,et al.Identification of insulin gene variants in neonatal diabetesJ Matern Fetal Neonatal Med3091035-10402017
Shen Y,et al.Insight into the biochemical characteristics of a novel glucokinase gene mutationHum Genet1293231-2382011
Otonkoski T,et al.Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cellsAm J Hum Genet813467-4742007
Bishay RH,Greenfield JRA review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODYMed J Aust20510480-4852016
Ping Xiao Y,et al.GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literatureJ Pediatr Endocrinol Metab298959-9642016
Quintens R,et al.Why expression of some genes is disallowed in beta-cellsBiochem Soc Trans363300-3052008