Characteristics of Congenital Myotonic Dystrophy (604 words, 2 pages)
is an dominant disorder characterized bymyotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, andEKG changes. The discovery that the genetic defect is an amplifiedtrinucleotide repeat in the 3-prime untranslated region of a protein kinasegene on chromosome 19 explains many of the unusual features of thisdisorder. Problems can range from very mild ...
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