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X-linked dystonia-deafness syndrome (Mohr-Tranebjaerg syndrome) is a rare neurodegenerative disease characterized by hearing loss and dystonia. So far, 7 mutations in the coding region of the DDP1 gene have been described. They consist of frameshift, nonsense, missense mutations or deletions.

A Novel Intronic Mutation in the DDP1 Gene in a Family With X-linked Dystonia-Deafness Syndrome