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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

14 Citazioni (Scopus)

Abstract

We describe three patients with steroid-resistant nephrotic syndrome associated with pathogenic changes in two COQ pathway genes.
Lingua originaleEnglish
pagine (da-a)224-226
Numero di pagine3
RivistaClinical Genetics
Volume92
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

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

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