Overview

myotonic dystrophy


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An autosomal dominant disorder due to an unstable trinucleotide repeat (q.v.). The gene involved encodes a muscle protein kinase, and the trinucleotide repeat is located in the 3′ untranslated region of the gene. In susceptible families, there is an increase in the severity of the disease in successive generations. See genetic anticipation.

Subjects: Medicine and Health — Chemistry.


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