title: Dystonia with and without deafness is caused by TIMM8A mutation.
mesh_terms: D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000235:genetics*; D004421:Dystonia / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007425:Intracellular Membranes / Q000378:metabolism; D008297:Male; D026901:Membrane Transport Proteins; D008928:Mitochondria / Q000378:metabolism; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins / Q000378:metabolism; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
chemical_list: D004268:DNA-Binding Proteins; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; C118122:TIMM8A protein, human