Article
[From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].
Nederlands tijdschrift voor geneeskunde - 10 Sept 2005
de Die-Smulders C E M, Faber C G, Smeets H J M
Abstract excerpt
Myotonic dystrophy type 1 is the most common muscular dystrophy in adults. Clinical features are variable and include myotonia, a slowly progressive muscle weakness and organ complications. Inheritance is autosomal dominant and characterised by anticipation, i.e. an earlier age of onset and more severe clinical course in subsequent generations, and exclusively maternal transmission of the most severe congenital...
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