CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.

Abstract excerpt

We report clinical, genetical and genealogical findings in 149 French families from the Rhône-Alpes area studied over a 5-year period. There was a significant excess of DM females compared to DM males with (CTG) repeat sizes between 1-2 kb. The mean maternal (CTG) repeat size was higher than paternal repeat size. Anticipation phenomenom was significantly higher after maternal than after paternal transmission. A...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to France
• Share to Genetic Variation