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Article

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

Archives of neurology - 1 Feb 2005

Ezquerra Mario, Campdelacreu Jaume, Muñoz Esteban, Tolosa Eduardo, Martí María J

Abstract excerpt

BACKGROUND: 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. OBJECTIVE: To investigate the presence of mutations in the DDP1 gene in a family with dystonia-deafness...

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PMID: 15710860
DOI: 10.1001/archneur.62.2.306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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