Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
rs1057519344 in
COQ8A gene and
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
PMID 24164873 2013 Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
PMID 18319074 2008 ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
PMID 27106809 2016 ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
PMID 24218524 2014 Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
PMID 25498144 2015 Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.
PMID 22036850 2012 Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
PMID 18319072 2008 CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
PMID 20580948 2010 Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.
PMID 26818466 2016 Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
PMID 24048965 2014 Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.
PMID 26640698 2015 Mitochondrial pathology in progressive cerebellar ataxia.