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| Lopes-Cendes,Iscia; Teive,Hélio G.A.; Cardoso,Francisco; Viana,Erika M.; Calcagnotto,Maria E.; Costa,Jaderson C. da; Trevisol-Bittencourt,Paulo C.; Maciel,Jayme A.; Rousseau,Marylene; Santos,André S.; Araújo,Abelardo Q.C.; Rouleau,G.A.. |
| Machado-Joseph disease (MJD) is a form of autosomal dominant spinocerebellar ataxia first described in North-American patients originating from the Portuguese islands of the Azores. Clinically this disorder is characterized by late onset progressive ataxia with associated features, such as: ophthalmoplegia, pyramidal and extrapyramidal signs and distal muscular atrophies. The causative mutation is an expansion of a CAG repeat in the coding region of the MJD1 gene. We have identified 25 unrelated families segregating the MJD mutation during a large collaborative study of spinocerebellar ataxias in Brazil. In the present study a total of 62 family members were genotyped for the CAG repeat in the MJD1 gene, as well as 63 non-MJD individuals (126 normal... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400026 |
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