Associated Papers
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
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
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 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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