Regular ArticleThe TOR1A (DYT1) Gene Family and Its Role in Early Onset Torsion Dystonia☆
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2019, European Journal of Medical GeneticsCitation Excerpt :It has been reported that individuals with TOR1A mutations on only one allele may not show dystonic symptoms; explained by incomplete or reduced penetrance. For example, among carriers of predominant mutation (c.907_909delGAG) only 30% have been shown to be symptomatic (Ozelius et al., 1999). In the case presented here, the parents who carry heterozygous p.Arg288* variant did not show any dystonic symptoms consistent with reduced penetrance.
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Present address: Department of Neurology, Medical University of Luebeck, 23538 Luebeck, Germany.
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Present address: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461.
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Present address: Fukuoka-shi, Fukuoka, 810-0055 Japan.
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To whom correspondence should be addressed at Department of Molecular Neurogenetics, Massachusetts General Hospital East, 13th Street, Building 149, Charlestown, MA 02129. Telephone: (617) 726-5728, Fax: (617) 724-1537. E-mail: [email protected].