Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical di...

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Autores principales: Meiner, A, Wolf, C, Carey, N, Okitsu, A, Johnson, K, Shelbourne, P, Kunath, B, Sauermann, W, Thiele, H, Kupferling, P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051643/
https://ncbi.nlm.nih.gov/pubmed/7473660
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