Article
Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2014
Saunders-Pullman Rachel, Fuchs Tania, San Luciano Marta, Raymond Deborah, Brashear Alison, Ortega Robert, Deik Andres, Ozelius Laurie J, Bressman Susan B
Abstract excerpt
A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (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. Genotyping for THAP1 and for guanine nucleotide binding protein (G...
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