Enter Topic
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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