Article
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.
Movement disorders : official journal of the Movement Disorder Society - 30 Apr 2007
Frédéric Mélissa, Lucarz Estelle, Monino Christine, Saquet Céline, Thorel Delphine, Claustres Mireille, Tuffery-Giraud Sylvie, Collod-Béroud Gwenaelle
Abstract excerpt
The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early-onset primary dystonia. The mutation frequency and prevalence have so far been only estimated from rare clinical epidemiological reports in some populations. The purpose of this study was to investigate the incidence at birth of the c.907delGAG mutation in a French-representative mixed population of newborn from...
Topics
- DNA
- France
- Gene Amplification
- Humans
- Incidence
- Infant, Newborn
- Mediterranean Islands
- Molecular Chaperones
- Mutation
- Sequence Deletion