Article
Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2.
Current neurology and neuroscience reports - 1 Sept 2002
Ranum Laura P W, Day John W
Abstract excerpt
Myotonic dystrophy (DM) is a dominantly inherited disorder with a peculiar 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 responsible for DM1 was identified as a CTG expansion located in the 3' untranslated region of...
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