Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Myotonic dystrophy (DM) is the most common adult-onset muscular dystrophy with an estimated prevalence of 1/8000. There are two genetically distinct types, DM1 and DM2. DM2 is generally milder with more phenotypic variability than the classic DM1. Our previous data on co-segregation of heterozygous...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Suominen, Tiina, Bachinski, Linda L, Auvinen, Satu, Hackman, Peter, Baggerly, Keith A, Angelini, Corrado, Peltonen, Leena, Krahe, Ralf, Udd, Bjarne
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2011
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137497/
https://ncbi.nlm.nih.gov/pubmed/21364698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.23
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk