Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

Pizzuti, A; Fabbrini, G; Salehi, L; Vacca, L; Inghilleri, M; Dallapiccola, B; Berardelli, A

Pizzuti, A; Fabbrini, G; Salehi, L; Vacca, L; Inghilleri, M; Dallapiccola, B; Berardelli, A.

Affiliation

Pizzuti A; CSS-San Giovanni Rotondo, Istituto Mendel, NEUROMED Institute, University "La Sapienza," Rome, Italy.

Neurology ; 62(6): 1021-2, 2004 Mar 23.

Article in En | MEDLINE | ID: mdl-15037720

Subject(s)

Dystonia/genetics; Gene Deletion; Hearing Loss, Sensorineural/genetics; Membrane Transport Proteins/genetics; Protein-Tyrosine Kinases/genetics; Adult; Agammaglobulinaemia Tyrosine Kinase; Agammaglobulinemia/complications; Agammaglobulinemia/genetics; Agraphia/complications; Agraphia/drug therapy; Agraphia/genetics; Botulinum Toxins/therapeutic use; Dystonia/complications; Dystonia/drug therapy; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural/complications; Humans; Immunoglobulins, Intravenous/therapeutic use; Male; Membrane Transport Proteins/deficiency; Mental Disorders/complications; Mental Disorders/genetics; Mitochondrial Precursor Protein Import Complex Proteins; Polymerase Chain Reaction; Protein-Tyrosine Kinases/deficiency; Syndrome; Vision Disorders/complications; Vision Disorders/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Protein-Tyrosine Kinases / Gene Deletion / Dystonia / Hearing Loss, Sensorineural Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Journal: Neurology Year: 2004 Document type: Article

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