Article
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
Human molecular genetics - 1 Mar 1999
Winchester C L, Ferrier R K, Sermoni A, Clark B J, Johnson K J
Abstract excerpt
The pathogenic mechanisms underlying myotonic dystrophy (DM), which results from a (CTG) n repeat expansion mutation in the 3'-untranslated region (3'-UTR) of the myotonic dystrophy protein kinase gene ( DMPK ), remain obscure. The multisystemic nature and variable expressivity of the symptoms are unlikely to be explained by a defect in this gene alone. However, the location of the DM-associated (CTG) n repeat in...
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