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

Neurology. 2004 Mar 23;62(6):1021-2. doi: 10.1212/01.wnl.0000115174.96423.a8.

Authors

A Pizzuti¹, G Fabbrini, L Salehi, L Vacca, M Inghilleri, B Dallapiccola, A Berardelli

Affiliation

¹ CSS-San Giovanni Rotondo, Istituto Mendel, NEUROMED Institute, University "La Sapienza," Rome, Italy.

PMID: 15037720
DOI: 10.1212/01.wnl.0000115174.96423.a8

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

Immunoglobulins, Intravenous
Membrane Transport Proteins
Mitochondrial Precursor Protein Import Complex Proteins
TIMM8A protein, human
Protein-Tyrosine Kinases
Agammaglobulinaemia Tyrosine Kinase
Botulinum Toxins