<i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.

Sinja Kieninger Ting XiaoNicole WeisschuhSusanne KohlKlaus RütherPeter Michael KroiselTobias BrockmannSteffi KnappeUlrich KellnerWolf LagrèzePascale MazzolaTobias B HaackBernd WissingerFelix Tonagel

Published in: Journal of medical genetics (2022)

This study expands previous findings on arLHON and emphasises the importance of <i>DNAJC30</i> in the genetic diagnostics of LHON and OA in European patients.

Keyphrases

copy number
end stage renal disease
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
gene expression
optical coherence tomography