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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 the unusual features of this
disorder. .... Middle of paper
.... 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 congenital form almost exclusively in the
offspring of affected women.
Congenital Myotonic Dystrophy
Congenital myotonic dystrophy is the early childhood form of ....
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Number of words: 598
Number of pages: 3 (approx. 250 words per double-spaced page)
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