In line with this, mutations in the TIMM8A gene that encodes the hTim8a protein, cause Mohr-Tranebjærg syndrome (MTS), an X-linked recessive neurodegenerative disorder characterised by progressive sensorineural hearing loss, dystonia, cortical blindness and dysphagia (Jin et al., 1996; Koehler et al., 1999; Tranebjaerg et al., 1995). This evidence concerns the gene TIMM8A and deafness dystonia syndrome.