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Myotonic Dystrophy
Beginning of essay
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 essay
....ase). 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 it on to
the child in a more severe form. Congenital means "from birth" because the
condition is usually identified at birth or soon after; myotonic means
"involving muscle stiffness"; and dystrophy is "muscle wasting and
weakness". Symptoms:
Often babies wi.... |
| Number of words: 598 |
Approximate pages: 3 |
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