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Myotonic Dystrophy

Part one of term paper
is an dominant disorder characterized by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and EKG changes. The discovery that the genetic defect is an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene on chromosome 19 explains many of the unusual features of this disorder. Probl ...

Part two of term paper
... presence of the genetic alteration may first be identified in a family when a child is born with the form of the condition known as congenital myotinic dystrophy. As the gene is passed on from generation to generation, the condition may have an earlier age of onset and more serious clinical features in each succeeding generation - a phenomenon referred to as anticipation. Anticipation occurs more frequently when the gene is passed from mother to child rather than from father to child. An ...

Word count: 598 | Approximate pages: 3

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