Table 1: Congenital Muscular Dystrophies (CMD) and Limb-Girdle Muscular Dystrophies (LGMD) Characterized by Hypoglycosylation of α-DG

Designation OMIM Gene Protein
MDC1C 60661 FKRP Fukutin-related protein
MDC1D 608840 LARGE Acetylglucosaminyltransferase-like protein
Fukuyama CMD 253800 FCMD Fukutin
Muscle-Eye-Brain disease (MEB) 253280 POMGnT1 O-linked mannose β1,2N-acetylglucosaminyltransferase
Walker-Warburg syndrome (WWS) 236670 POMT1
LGMD2I 607155 FKRP; DPM3 Fukutin-related protein; Dolichyl-phosphate mannosyltransferase polypeptide 3
LGMD2K 609308 POMT1 O-mannosyl-transferase
LGMD2L 611307 FCMD Fukutin
LGMD2M 611588 POMGnT1 O-linked mannose β1,2N-acetylglucosaminyltransferase
LGMD2N 613158 POMT2 O-mannosyl-transferase

* Very recently, mutations in DPM2 were associated to a form of CMD characterised by severe cognitive impairment, early-onset myoclonic epilepsy and cerebellar hypoplasia [9, 24].