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Beginning of Paper
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Myotonic Dystrophy
Myotonic dystrophy 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. Problems can range from very mild to v ....
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Middle of Paper
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.... 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
myotonic dystrophy (also known as Steinert's disease). Usually in myotonic
dystrophy the symptoms begin to show in childhood or later in life, but
symptoms of congenital myotonic dystrophy are evident from birth. It occurs
only when the mother already has myotonic dystrophy and she passes i ....
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