An Immunological Analysis of Dystroglycan Subunits: Lessons Learned from a Small Cohort of Non-Congenital Dystrophic Patients

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

Designation	OMIM	Gene	Protein
CMD^*
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 POMT2	O-mannosyl-transferase
LGMD
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].