Abstract： The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation.[1] C12orf65 gene-related diseases are rare and present with large heterophenotypes.[1-4] Most of the reported patients have had optic atrophy with intellectual disability,encephalomyopathy,spastic paraplegia,and ophthalmoplegia.[1-3] Peripheral neuropathy has been reported in one family.[3] Here,we report a case of a Chinese patient with optic atrophy and distal motor neuropathy due to a novel compound heterozygous mutation in the C12orf65 gene.