Muscular dystrophy-dystroglycanopathy

Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]

Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. The most severe clinical spectrum (type A) are characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, mildest clinical spectrum (type C) are with limb-girdle muscular dystrophy. Type B is intermediate phenotypes between type A and C.

Congenital disorder of metabolism

nt06013  O-Glycan biosynthesis

POMT1 [HSA:10585] [KO:K00728]
POMT2 [HSA:29954] [KO:K00728]
POMGNT1 [HSA:55624] [KO:K09666]
FKTN [HSA:2218] [KO:K19872]
FKRP [HSA:79147] [KO:K19873]
LARGE [HSA:9215] [KO:K09668]
ISPD [HSA:729920] [KO:K21031]
GTDC2 [HSA:84892] [KO:K18207]
DAG1 [HSA:1605] [KO:K06265]
TMEM5 [HSA:10329] [KO:K21052]
B3GALNT2 [HSA:148789] [KO:K09654]
POMK [HSA:84197] [KO:K17547]
B3GNT1 [HSA:11041] [KO:K21032]
GMPPB [HSA:29925] [KO:K00966]

PMID:17878207

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Brain 130:2725-35 (2007)
DOI:10.1093/brain/awm212

PMID:15792865

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Neuromuscul Disord 15:271-5 (2005)
DOI:10.1016/j.nmd.2005.01.013