Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Clin Genet. 2017 Aug;92(2):224-226. doi: 10.1111/cge.12960. Epub 2017 Mar 22.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia / genetics*
  • Ataxia / metabolism
  • Computer Simulation
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Muscle Weakness / genetics*
  • Muscle Weakness / metabolism
  • Mutation*
  • Nephrotic Syndrome / complications*
  • Pedigree
  • Ubiquinone / analogs & derivatives
  • Ubiquinone / biosynthesis
  • Ubiquinone / deficiency*
  • Ubiquinone / genetics
  • Ubiquinone / metabolism

Substances

  • ubiquinone 6
  • Ubiquinone
  • coenzyme Q10
  • Ubiquinone Q2

Supplementary concepts

  • Coenzyme Q10 Deficiency