ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

doi:10.1016/j.ajhg.2007.12.024

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Article

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

American journal of human genetics - 1 Mar 2008

Lagier-Tourenne Clotilde, Tazir Meriem, López Luis Carlos, Quinzii Catarina M, Assoum Mirna, Drouot Nathalie, Busso Cleverson, Makri Samira, Ali-Pacha Lamia, Benhassine Traki, Anheim Mathieu, Lynch David R, Thibault Christelle, Plewniak Frédéric, Bianchetti Laurent, Tranchant Christine, Poch Olivier, DiMauro Salvatore, Mandel Jean-Louis, Barros Mario H, Hirano Michio, Koenig Michel

Abstract excerpt

Muscle coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency has been identified in more than 20 patients with presumed autosomal-recessive ataxia. However, mutations in genes required for CoQ(10) biosynthetic pathway have been identified only in patients with infantile-onset multisystemic diseases or isolated nephropathy. Our SNP-based genome-wide scan in a large consanguineous family revealed a locus for...

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Identifiers

PMID: 18319074
DOI: 10.1016/j.ajhg.2007.12.024
PMCID: PMC2427193

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