Associated Papers
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
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 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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