Congenital muscular dystrophies (CMD/MDC), including:
Merosin-deficient CMD (MDC1A);
Ullrich CMD (UCMD);
Integrin alpha7-deficient CMD;
CMD with joint hyperlaxity (CMDH);
CMD with epidermolysis bullosa;
Walker-Warburg syndrome (WWS);
Muscle-eye-brain disease (MEB);
Fukuyama CMD (FCMD);
CMD with muscle hypertrophy (MDC1C);
CMD with severe intellectual impairment and abnormal glycosylation (MDC1D);
Rigid spine syndrome (RSS);
LMNA-deficient CMD;
CMD with respiratory failure and muscle hypertrophy (MDC1B);
Bethlem myopathy

Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP) and Large; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C.

Musculoskeletal disease; Nervous system disease

(MDC1A) LAMA2 [HSA:3908] [KO:K05637]
(UCMD, BM) COL6A [HSA:1291 1292 1293] [KO:K06238]
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(CMDH) ITGA9 [HSA:3680] [KO:K06585]
(CMD with epidermolysis bullosa) PLEC [HSA:5339] [KO:K10388]
(WWS) POMT1 [HSA:10585] [KO:K00728]
(WWS) POMT2 [HSA:29954] [KO:K00728]
(WWS, FCMD) FKTN [HSA:2218]
(WWS, MDC1C) FKRP [HSA:79147]
(WWS, MDC1D) LARGE [HSA:9215] [KO:K09668]
(MEB) POMGnT1 [HSA:55624] [KO:K09666]
(RSS) SEPN1 [HSA:57190]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]

About defects in genes encoding for putative or demonstrated glycosyltransferases, see H00120.

PMID:15351421 (gene, description)

Muntoni F, Voit T

The congenital muscular dystrophies in 2004: a century of exciting progress.

Neuromuscul Disord 14:635-49 (2004)

PMID:21496624 (gene, description)

Sparks SE, Escolar DM

Congenital muscular dystrophies.

Handb Clin Neurol 101:47-79 (2011)

PMID:16575835

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

Hum Mutat 27:453-9 (2006)

PMID:18852439

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Neurology 71:1245-53 (2008)