Zhen-Hui Liu

A novel NDUFS1 missense variant associated with optic atrophy and mitochondrial dysfunction.

This study identified two compound heterozygous variants in the NDUFS1 gene in a patient presenting with optic atrophy including the known variant c.64C>T p.(R22X) and a novel variant c.404G>A p.(G135D). The Ndufs1G135D/- mouse model exhibited reduced Ndufs1 expression, impaired optic nerve function and thinning of the...