Presymptomatic diagnosis of myotonic dystrophy.

The discovery of an expanded (CTG)n repeat sequence in myotonic dystrophy (DM) has greatly improved our ability to detect DM gene carriers who have few or none of the classical signs of this disorder. We report here our experience with two such groups of gene carriers. We used a PCR based protocol t...

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Detalhes bibliográficos
Main Authors: Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016170/
https://ncbi.nlm.nih.gov/pubmed/1453426
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