Blepharospasm and limb dystonia caused by MohrTranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene

Movement Disorders

Volumn 22, Issue 9, 2007, Pages 1328-1331

  Kim, Hee T ^a   Edwards, Mark J ^a   Tyson, Jess ^b   Quinn, Niall P ^a   Bitner Glindzicz, Maria ^b   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Deafness; Dystonia; Mohr Tranebjaerg

Indexed keywords

BOTULINUM TOXIN A; GABAPENTIN; GENOMIC DNA; LEVODOPA; PEPTIDE; RNA; VALPROIC ACID;

ADULT; ARTICLE; BLEPHAROSPASM; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; DYSTONIA; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAM; EVOKED VISUAL RESPONSE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MALE; MOHR TRANEBJAERG SYNDROME; MUSCLE BIOPSY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ADULT; BLEPHAROSPASM; DNA MUTATIONAL ANALYSIS; DYSTONIA; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; OROFACIODIGITAL SYNDROMES; RNA SPLICE SITES;

EID: 34548257274     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21351     Document Type: Article

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