Article
Characteristics of myotonic dystrophy in Istria: molecular genetics approach--mutation analysis.
Collegium antropologicum - 1 Dec 1998
Medica I, Logar N, Batagelj M, Peterlin B
Abstract excerpt
Myotonic dystrophy (DM) is the most prevalent myopathy in adults. In Istria one of the highest prevalence rates of 18/100,000 has been reported. Two loci, the most prevalent 19q locus with mutations in the myotonin protein kinase gene and the second locus mapped to the 3q have been so far implicated in DM. The purpose of this study was to evaluate the molecular pathogenesis in the Istrian population by the...
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