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THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
BACKGROUND: The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families. METHODS: We sequenced the THAP1 gene in a series o...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
American Academy of Neurology
2010
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2839194/ https://ncbi.nlm.nih.gov/pubmed/20211909 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181d5276d |
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