DPM3-congenital disorder of glycosylation
DPM3-congenital disorder of glycosylation
Definition
DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
Also known as carbohydrate deficient glycoprotein syndrome type Io, CDG syndrome type Io, CDG-Io, CDG1O, congenital disorder of glycosylation type 1o, congenital disorder of glycosylation type Io, DPM3-CDG, DPM3-congenital disorder of glycosylation, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 — per MONDO