
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
Keywords: CDG; congenital disorder of glycosylation; DPM; dolichol-P-mannose synthase; DLO; dolichol-linked oligosaccharides; ER; endoplasmic reticulum; CK; creatine kinase; MRI; magnetic resonance imaging; EEG; electroencephalogram; CGH; comparative genomic hybrid