TSFM and Ataxia: 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).