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

Giuseppe Grandaliano, M. Gigante, S. Diella, L. Santangelo, E. Trevisson, M. J. Acosta, M. Amatruda, G. Finzi, G. Caridi, L. Murer, M. Accetturo, E. Ranieri, G. M. Ghiggeri, M. Giordano, L. Salviati, L. Gesualdo

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

We describe three patients with steroid-resistant nephrotic syndrome associated with pathogenic changes in two COQ pathway genes.
Original languageEnglish
Pages (from-to)224-226
Number of pages3
JournalClinical Genetics
Volume92
DOIs
Publication statusPublished - 2017

Keywords

  • Ataxia
  • Computer Simulation
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mitochondrial Diseases
  • Muscle Weakness
  • Mutation
  • Nephrotic Syndrome
  • Pedigree
  • Ubiquinone

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