Two novel compound heterozygous mutations, c.944G>A, p.Cys315Tyr and c.856C>T, p.Gln286Xaa, in the TSFM gene of patients with juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy, were reported to lead to EFTU protein degradation and marginally increased mitochondrial protein translation activity (Ahola et al., 2014). The gene discussed is TSFM; the disease is cerebellar ataxia.