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  • Molecular assay reagents intended to identify mutations in the translocase of inner mitochondrial membrane 8 homologue A (yeast) (TIMM8A) gene, located at chromosome Xq22.1, which is a mitochondrial intermembrane chaperone that participates in the import and insertion of multipass transmembrane proteins into the mitochondrial inner membrane. This X-linked inherited genetic mutation has been identified in patients with Mohr-Tranebjaerg syndrome, also known as dystonic-deafness syndrome or X-linked recessive deafness type 1.
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