Yu-Jie Jin

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

Two compound heterozygous variants in the NDUFS1 gene in a patient presenting with optic atrophy are identified including the known variant c.64C>T p.(R22X) and a novel variant c.404G>A p.(G135D), associated with impaired complex I-mediated electron transfer and mitochondrial dysfunction, providing insights into the pa...