@article{2b7ca1acaff6490d808ac2df06852d34,
title = "Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants",
abstract = "We describe three patients with steroid-resistant nephrotic syndrome associated with pathogenic changes in two COQ pathway genes.",
keywords = "Ataxia, Computer Simulation, DNA Mutational Analysis, Female, Humans, Male, Mitochondrial Diseases, Muscle Weakness, Mutation, Nephrotic Syndrome, Pedigree, Ubiquinone, Ataxia, Computer Simulation, DNA Mutational Analysis, Female, Humans, Male, Mitochondrial Diseases, Muscle Weakness, Mutation, Nephrotic Syndrome, Pedigree, Ubiquinone",
author = "M. Gigante and S. Diella and L. Santangelo and E. Trevisson and Acosta, {M. J.} and M. Amatruda and G. Finzi and G. Caridi and L. Murer and M. Accetturo and E. Ranieri and Ghiggeri, {G. M.} and M. Giordano and Giuseppe Grandaliano and L. Salviati and L. Gesualdo",
year = "2017",
doi = "10.1111/cge.12960",
language = "English",
volume = "92",
pages = "224--226",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Publishing Ltd",
}