NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.

Virginia E KimonisRehab Al DubaisiAndrew E MacleanKathy HallLan WeissAlexander E StoverPhilip H SchwartzBethany BergCheng ChengSumit Parikh Blair Rene ConnerSitao WuAnton N HassoDaryl A ScottMary Kay KoenigRachid KaramSha TangMoyra SmithElizabeth ChaoJanneke Balk Eli Hatchwell Peggy S Eis

Published in: Journal of medical genetics (2020)

We report on five new patients with NUBPL disease, adding to the number and phenotypic variability of patients diagnosed worldwide, and review prior reported patients with pathogenic NUBPL variants.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
oxidative stress
gene expression
dna methylation
copy number
patient reported outcomes
genome wide
patient reported