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Improvement in the molecular diagnosis of Machado-Joseph disease
Maciel, P.; Costa, M.; Ferro, A.; Rousseau, M.; Santos, C.; Gaspar, C.; Barros, J.; Rouleau, G.; Coutinho, P.; Sequeiros, J.Abstract BACKGROUND: Direct detection of the gene mutation allows for the confirmation of the clinical diagnosis of Machado-Joseph disease (MJD), the most frequent cause of autosomal dominant spinocerebellar ataxia worldwide. OBJECTIVE: To address the main difficulties in our national MJD predictive testing program. The first was the emergence of intermediate alleles, for which it is not yet possible to determ...
Data: 2001
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Origem: Repositório Científico do Centro Hospitalar do Porto
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