Dystroglycanopathy;
Walker-Warburg syndrome (WWS);
Muscle-eye-brain disease (MEB);
Fukuyama congenital muscular dystrophy (FCMD);
Congenital muscular dystrophy with muscle hypertrophy (MDC1C);
Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D)

Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies.

Inherited metabolic disease; Muscular disease

POMT1; protein-O-mannosyltransferase 1 [HSA:10585] [KO:K00728]
POMT2; protein-O-mannosyltransferase 2 [HSA:29954] [KO:K00728]
POMGNT1; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase [HSA:55624] [KO:K09666]
FKTN; fukutin [HSA:2218]
FKRP; fukutin related protein [HSA:79147]
LARGE [HSA:9215] [KO:K09668]

PMID:19019316

Muntoni F, Torelli S, Brockington M

Muscular dystrophies due to glycosylation defects.

Neurotherapeutics 5:627-32 (2008)

PMID:17030669

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Arch Neurol 63:1491-5 (2006)

PMID:15121789

Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

J Med Genet 41:e61 (2004)

PMID:15894594

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

J Med Genet 42:907-12 (2005)

PMID:21496624 (gene)

Sparks SE, Escolar DM

Congenital muscular dystrophies.

Handb Clin Neurol 101:47-79 (2011)

PMID:18769252 (gene)

Guglieri M, Straub V, Bushby K, Lochmuller H

Limb-girdle muscular dystrophies.

Curr Opin Neurol 21:576-84 (2008)