DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Annals of Neurology , 05/02/2012

The authors describe a new Congenital Disorders of Glycosylation (CDG), due to a deficiency of DPM2. Hence, mutations have now been described in the genes for the 3 subunits of DPM: DPM1, DPM2 and DPM3, whereby DPM2–CDG links the Congenital Disorders of Glycosylation to the Congenital Muscular Dystrophies.

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