Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Abnormalities of the N-glycosylation and O-mannosylation pathways are respectively involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies [1 –4]. Dolichol-P-mannose (DPM) is produced by the DPM synthase and plays an important role, as a mannosyl donor, in four different glycosylation pathways (N-glycosylation, C-mannosylation, glycosyl-phosphatidylinositol anchor assembly, and O-mannosylation) [1]. DPM synthase is composed of three sub units; DPM3 anchors the cytoplasmic catalytic subunit DPM1 to the endoplasmic reticulum membrane, and DPM2 stabilizes the complex [5–7].

Source: Neuromuscular Disorders - May 8, 2019 Category: Neurology Authors: J. Svahn, P. Lafor êt, C. Vial, N. Streichenberger, N. Romero, C. Bouchet-Séraphin, A. Bruneel, T. Dupré, N. Seta, R. Menassa, L. Michel-Calemard, T. Stojkovic Tags: Case report Source Type: research