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A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family Cover

A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family

Tremor and Other Hyperkinetic Movements
Volume 3 (2013): Issue 0
By: Oscar Bernal-Pacheco,  Genko Oyama,  Angela Briton,  Andrew B. Singleton,  Hubert H. Fernandez,  Ramon L. Rodriguez,  Irene A. Malaty and  Michael S. Okun  
Open Access
|Oct 2013

Figures & Tables

tre-03-138-4462-2-g001.jpg
Figure 1

Pedigree of a Colombian Family with DYT-5 dystonia. Only women affected. Genetic analysis in the index case (arrow) revealed a new mutation in exon 1.

tre-03-138-4462-2-g002.jpg
Figure 2

GCH1 Mutation. Upper panel, wild-type sequence from unaffected control. Lower panel, deletion of G nucleotide, signified by red arrowhead, (c.159delG, based on sequence accession number NM_000161), which results in a frame shift and the creation of a premature stop codon p.W53X (based on sequences accession number NP_000152.1).

DOI: https://doi.org/10.5334/tohm.134 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Oct 15, 2012
Accepted on: Sep 9, 2013
Published on: Oct 10, 2013
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
DRD,
dopamine,
Parkinson’s disease,
dystonia,
genetics

© 2013 Oscar Bernal-Pacheco, Genko Oyama, Angela Briton, Andrew B. Singleton, Hubert H. Fernandez, Ramon L. Rodriguez, Irene A. Malaty, Michael S. Okun, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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