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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Bibliografiska uppgifter
Huvudupphovsmän: Brunner, H G, Nillesen, W, van Oost, B A, Jansen, G, Wieringa, B, Ropers, H H, Smeets, H J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1992
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016170/
https://ncbi.nlm.nih.gov/pubmed/1453426
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