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An autosomal dominant condition caused by heterozygous tetranucleotide repeat expansion(s) (CCTG)n in intron 1 of the CNBP gene, encoding cellular nucleic acid-binding protein. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes. Myotonic dystrophy 2 is rarer and usually manifests with less severe symptoms than myotonic dystrophy 1.
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