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Clinical Implications of Basic Research
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Volume 355:1825-1827 October 26, 2006 Number 17
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A Reversal of Misfortune for Myotonic Dystrophy?
Thomas A. Cooper, M.D.

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Myotonic dystrophy, the most common cause of adult-onset muscular dystrophy, is a dominantly inherited disorder in which death is usually caused by the wasting of skeletal muscle and defects in cardiac conduction. Mutations in two unrelated genes cause strikingly similar disease phenotypes. The more common form, myotonic dystrophy 1, is caused by an expanded CTG repeat (with expansions ranging from 50 to 2000 repeats) within the noncoding 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. The less common form of the disease, myotonic dystrophy 2, is caused by an expanded CCTG repeat (with expansions ranging . . . [Full Text of this Article]


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From the Departments of Pathology and Molecular and Cellular Biology, Baylor College of Medicine, Houston.




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