Article
Congenital and infantile myotonic dystrophy.
Handbook of clinical neurology - 1 Jan 2013
Echenne Bernard, Bassez Guillaume
Abstract excerpt
Myotonic dystrophy (DM) encompasses two gene defects, DM1 (myotonic dystrophy type 1) being currently the sole disorder leading to a childhood form of the disease. As consequence of the non coding unstable CTG repeat expansion mutation, DM1 presents as an extremely wide and diverse clinical continuum ranging from antenatal to late adult forms, the complexity of the disease being reinforced by multisystemic...
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