Dictionary of Human Evolution and Biology

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Myotonic Dystrophy

Heritable autosomal dominant disease characterized by difficulty relaxing contracted muscles; causes muscle wasting, cataracts, balding; other defects in gonads and heart; mental impairment. Onset in young adulthood. The defective protein is a muscle kinase; the trait exhibits evidence for a progressive trinucleotide repeat mutation that makes symptoms more severe in successive generations, a phenomenon known as anticipation, and for genomic imprinting. Aka Kennedy disease, dystonia myotonica (DM).

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