Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

@article{Shalata2019PrimaryCQ,
  title={Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature},
  author={A. Shalata and Michael Edery and Clair Habib and J. Genizi and Mohammad Mahroum and Lama Khalaily and N. Assaf and I. Segal and Hoda Abed El Rahim and H. Shapira and Danielle Urian and S. Tzur and Liza Douiev and Ann Saada},
  journal={Neurochemical Research},
  year={2019},
  pages={1-13}
}
Primary deficiency of coenzyme Q10 (CoQ10 ubiquinone), is classified as a mitochondrial respiratory chain disorder with phenotypic variability. The clinical manifestation may involve one or multiple tissue with variable severity and presentation may range from infancy to late onset. ADCK3 gene mutations are responsible for the most frequent form of hereditary CoQ10 deficiency (Q10 deficiency-4 OMIM #612016) which is mainly associated with autosomal recessive spinocerebellar ataxia (ARCA2, SCAR9… Expand
2 Citations
Primary coenzyme Q10 deficiency due to COQ8A gene mutations

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