%0 Case Reports
%T A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
%A Aguirre LA
%A del Castillo I
%A Macaya A
%A Medá C
%A Villamar M
%A Moreno-Pelayo MA
%A Moreno F
%J Am J Med Genet A
%V 140
%N 4
%D Feb 2006 15
%M 16411215
%F 2.578
%R 10.1002/ajmg.a.31079
%X