Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Pr...

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Detalles Bibliográficos
Autores principales: Schuler-Faccini, Lavínia, Osorio, Claudio Maria, Romariz, Flavia, Paneque, Milena, Sequeiros, Jorge, Jardim, Laura Bannach
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983584/
https://www.ncbi.nlm.nih.gov/pubmed/24764760

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