%0 Case Reports
%T A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
%A Aguirre LA
%A Pérez-Bas M
%A Villamar M
%A López-Ariztegui MA
%A Moreno-Pelayo MA
%A Moreno F
%A del Castillo I
%J Neuromuscul Disord
%V 18
%N 12
%D Dec 2008
%M 18952432
%F 3.538
%R 10.1016/j.nmd.2008.09.009
%X Mohr-Tranebjaerg syndrome is a rare X-linked condition characterized by the association of dystonia and progressive postlingual sensorineural hearing impairment. Here we report the clinical and genetic findings in a Spanish patient with MTS carrying a novel mutation in the DDP1 (deafness-dystonia peptide 1) gene, which encodes TIMM8a, a component of the mitochondrial protein translocation system. The phenotypic variability observed in patients with Mohr-Tranebjaerg syndrome suggests the involvement of modifier factors which may modulate the clinical manifestations of the syndrome.