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Cerebral involvement in myotonic dystrophies

7 May 2007

Abstract excerpt

Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including the brain. One key difference between DM1 and DM2 is that a congenital form has been described for DM1 only. Expression of RNA transcripts containing pathogenic repeat lengths produces defects in alternative splicing of...

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PMID: 17486579
DOI: 10.1002/mus.20800

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