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

Mario Ezquerra | Zendy; Jaume Campdelacreu | Zendy; Esteban Muñoz | Zendy; Eduardo Tolosa | Zendy; M. J. Martí | Zendy

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

Author(s) -

Mario Ezquerra,

Jaume Campdelacreu,

Esteban Muñoz,

Eduardo Tolosa,

M. J. Martí

Publication year - 2005

Publication title -

archives of neurology

Language(s) - English

Resource type - Journals

eISSN - 1538-3687

pISSN - 0003-9942

DOI - 10.1001/archneur.62.2.306

Subject(s) - frameshift mutation , genetics , missense mutation , exon , dystonia , mutation , nonsense mutation , gene , biology , rna splicing , splice site mutation , gene mutation , alternative splicing , rna , neuroscience

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.

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