Myotonic Dystrophy
Beginning of 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 ....
Middle of paper
.... 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. Anticipation
appears to be explained by the ability of the gene to expand from
generation to generation. Amplification is frequently observed after
parent-to-child transmission, but extreme amplifications are not
transmitted through the male line. This explains anticipation and the
occurrence of the severe ....
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Word count: 598
Page count: 3 (approximately 250 words per page)
