C3250443_NCI_NICHD | Knowledge4COVID-19

Property	Value
?:definition	An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes.
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