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Molecular genetics of congenital myotonic dystrophy

18 Jul 2019

Abstract excerpt

Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3'-UTR of the DMPK gene. Congenital Myotonic Dystrophy (CDM1) represents the most severe form of the disease, with prenatal onset, symptoms distinct from adult onset DM1, and a high rate of perinatal mortality. CDM1 is usually associated with very large CTG...

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PMID: 31326502
DOI: 10.1016/j.nbd.2019.104533

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