Article
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
European journal of human genetics : EJHG - 1 Jul 2011
Suominen Tiina, Bachinski Linda L, Auvinen Satu, Hackman Peter, Baggerly Keith A, Angelini Corrado, Peltonen Leena, Krahe Ralf, Udd Bjarne
Abstract excerpt
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 recessive CLCN1 mutations in DM2 patients indicated a higher than expected DM2 prevalence. The aim of this study was...
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