Genética das Distonias
DOI:
https://doi.org/10.34024/rnc.2000.v8.8946Palavras-chave:
Distonia, genética, DYT1, distonia doparresponsivaResumo
As síndromes distônicas apresentam uma grande variabilidade clínica e genética. Hoje, existe uma tendência crescente à classificação genética das formas hereditárias de distonia. O avanço das técnicas de biologia molecular vem permitindo o mapeamento genético e alguns tipos de distonia já tiveram os seus respectivos genes identificados, como a distonia primária ligada ao DYT1 e a distonia doparresponsiva. Apresentamos uma breve revisão sobre os aspectos clínicos e genéticos de algumas formas hereditárias de distonia, enfatizando aquelas nas quais a distonia apresenta-se como sintoma único ou predominante.
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Publicado: 2000-06-30
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