Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

BACKGROUND: A founder mutation in the THAP1 gene causing primary dystonia was originally described in the Amish-Mennonites. However there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups. METHODS: Genotyping for THA...

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Main Authors: Saunders-Pullman, Rachel, Fuchs, Tania, San Luciano, Marta, Raymond, Deborah, Brashear, Alison, Ortega, Robert, Deik, Andres, Ozelius, Laurie J., Bressman, Susan B.
פורמט: Artigo
שפה:Inglês
יצא לאור: 2014
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4013240/
https://ncbi.nlm.nih.gov/pubmed/24500857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.25818
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