Associated Papers
Distal Motor Neuropathy with Pyramidal Involvement and Optic Atrophy: Think of C12orf65 Mutation as a Possible Cause.
Mustafa F et al.
Annals of Indian Academy of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG55
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E et al.
Genetics and Molecular Biology, 2020
32478789 (PubMed )
Supplement: 1415-4757-GMB-43-2-e20180271-s1.pdf
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A et al.
Journal of Neuromuscular Diseases, 2014
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