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Myotonic Dystrophy
Part 1 of Paper
....ontal 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 very severe even within the
same family, an.... Part 2 of Paper
....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
myotonic dystrophy (also known as Steinert's disease). Usually in myotonic
dystrophy the symptoms begin to show in childhood or later in life, but
sy.... |
| Number of words: 598 - Approximate pages: 3 |
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