MTRFR and hereditary motor and sensory neuropathy type 6: The C12orf65 gene encodes a protein that is critical for the release of newly synthesized proteins from mitochondrial ribosomes and its deficiency was reported in patients with Leigh syndrome and optic atrophy [172], in autosomal recessive hereditary spastic paraplegia 55 (SPG55) [168] or Charcot-Marie-Tooth disease type 6 [169], or Behr’s syndrome (optic atrophy, spastic paraparesis, motor neuropathy, ataxia, ophthalmoparesis) [170].