Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome
Eri Imagawa, Aviva Fattal-Valevski, Ori Eyal, Satoko Miyatake, Ann Saada, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto
Journal of Neurology, Neurosurgery & Psychiatry Feb 2016, 87 (2) 212-216; DOI: 10.1136/jnnp-2014-310084