title: 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.
authors.forename: Luis A
authors.initials: LA
authors.lastname: Aguirre
authors.forename: Ignacio
authors.initials: I
authors.lastname: del Castillo
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
authors.forename: Carme
authors.initials: C
authors.lastname: Medá
authors.forename: Manuela
authors.initials: M
authors.lastname: Villamar
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Moreno-Pelayo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
mesh_terms: D002648:Child; D003638:Deafness / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013030:Spain; D013577:Syndrome
chemical_list: D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human