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Disorders of Human Coenzyme Q10 Metabolism: An Overview.
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Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Mol Genet Genomic Med. 2020 Oct;8(10):e1420. doi: 10.1002/mgg3.1420. Epub 2020 Aug 2.
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Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic variants, including a large intragenic deletion.
JIMD Rep. 2020 Jun 2;54(1):45-53. doi: 10.1002/jmd2.12107. eCollection 2020 Jul.
4
A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4.
Clin Biochem. 2020 Oct;84:93-98. doi: 10.1016/j.clinbiochem.2020.06.010. Epub 2020 Jun 14.
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Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28.
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Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
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Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q Deficiency in a Female Sib-Pair.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
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