Published online by Cambridge University Press: 21 November 2024
The most common form of muscular dystrophy in adults, myotonic dystrophy (MD) is an autosomal dominant neuromuscular disease caused by the trinucleotide expansion of CTG repeats. The location of these CTG repeats differs between types of MD with the chromosome 19 gene DMPK (dystrophia-myotonica protein kinase) being the culprit gene in myotonic dystrophy type 1 (DM-1 aka Steinert’s disease), and the chromosome 3 gene ZnFP9 (zinc finger protein 9) being the culprit gene in myotonic dystrophy type 2 (DM-2). A greater number of CTG repeats predicts an earlier onset of disease.
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