Coenzyme Q10 deficiency, primary, 2
OMIM:607426Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | PDSS1 |
|---|---|
| Reference transcript | NM_014317.3 |
| DNA Change | c.924T>G |
| A.A. Change | p.Asp308Glu |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rotig A.CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. |