Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Myotonic dystrophy (DM) is caused by abnormal expansion of a polymorphic (CTG)n repeat, located in the DM protein kinase gene. We determined the (CTG)n repeat lengths in a broad range of tissue DNAs from patients with mild, classical, or congenital manifestation of DM. Differences in the repeat leng...

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Main Authors: Jansen, G., Willems, P., Coerwinkel, M., Nillesen, W., Smeets, H., Vits, L., Höweler, C., Brunner, H., Wieringa, B.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918095/
https://ncbi.nlm.nih.gov/pubmed/8128954
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