Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Francesca MagrinelliElisa CaliVinícius Lopes BragaUluç YisHoda TomoumHanan ShamseldinJulian RaimanChristoph KernstockFlavio Moura Rezende FilhoOrlando Graziani Povoas BarsottiniRobert W TaylorElsebet ØstergaardAbdullah TamimKarin SchäferhoffJuliana Maria Ferraz SallumMaha S ZakiFernando KokKailash P BhatiaBernd WissingerKate SergeantTobias B HaackRita HorvathSemra HizFowzan S AlkurayaHenry Houlden José Luiz PedrosoReza Maroofian

Published in: Movement disorders clinical practice (2022)

variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy.

Keyphrases

copy number
optical coherence tomography
optic nerve
deep brain stimulation
intellectual disability
gene expression
autism spectrum disorder