Article
Myotonic dystrophy: RNA pathogenesis comes into focus.
American journal of human genetics - 1 May 2004
Ranum Laura P W, Day John W
Abstract excerpt
Myotonic dystrophy (DM)--the most common form of muscular dystrophy in adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare pattern of multisystemic clinical features affecting skeletal muscle, the heart, the eye, and the endocrine system. Two genetic loci have been associated with the DM phenotype: DM1, on chromosome 19, and DM2, on chromosome 3. In 1992, the mutation...
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