Gene | Protein function | Associated dystroglycanopathy according to OMIM [49] | Reference |
---|---|---|---|
B3GALNT2 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 11, with brain and eye anomalies | [50] |
B3GNT1 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 13, with brain and eye anomalies | [51] |
DAG1 | Connects actin cytoskeleton to extracellular matrix | Congenital muscular dystrophy-dystroglycanopathy type A 9, with brain and eye anomalies | [52] |
Limb-girdle muscular dystrophy-dystroglycanopathy type C 9 | [53] | ||
DOLK | Kinase | Congenital disorder of glycosylation type Im | [54] |
DPM1 | Transferase | Congenital disorder of glycosylation type Ie | [55] |
DPM2 | Transferase | Congenital disorder of glycosylation type Iu | [56] |
DPM3 | Transferase | Congenital disorder of glycosylation type Io | [44] |
FKRP | Glycosyltransferase | Limb-girdle muscular dystrophy-dystroglycanopathy type C 5/LGMD2I | [25] |
Congenital muscular dystrophy-dystroglycanopathy type A 5, with or without mental retardation | [57] | ||
Congenital muscular dystrophy-dystroglycanopathy type B 5, with or without mental retardation | [25] | ||
FKTN | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 4, with brain and eye anomalies | [58] |
Congenital muscular dystrophy-dystroglycanopathy type B 4, without mental retardation | [28] | ||
Limb-girdle muscular dystrophy-dystroglycanopathy type C 4 | [59] | ||
GMPPB | Transferase | Congenital muscular dystrophy-dystroglycanopathy type A 14, with brain and eye anomalies | [30] |
Congenital muscular dystrophy-dystroglycanopathy type B 14, with mental retardation | |||
Limb-girdle muscular dystrophy-dystroglycanopathy type C 14 | |||
ISPD | Synthase | Congenital muscular dystrophy-dystroglycanopathy type A 7, with brain and eye anomalies | [47] |
Limb-girdle muscular dystrophy-dystroglycanopathy type C 7 | [60] | ||
LARGE1 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type B 6, with mental retardation | [61] |
POMGNT1 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 3, with brain and eye anomalies | [62] |
Congenital muscular dystrophy-dystroglycanopathy type B 3, with mental retardation | [28] | ||
Limb-girdle muscular dystrophy-dystroglycanopathy type C 3 | [63] | ||
POMGNT2 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 8, with brain and eye anomalies | [64] |
POMK | Kinase | Congenital muscular dystrophy-dystroglycanopathy type A 12, with brain and eye anomalies | [65] |
Limb-girdle muscular dystrophy-dystroglycanopathy type C 12 | [66] | ||
POMT1 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 1, with brain and eye anomalies | [67] |
Congenital muscular dystrophy-dystroglycanopathy type B 1, with mental retardation | [68] | ||
Limb-girdle muscular dystrophy-dystroglycanopathy type C 1 | [69] | ||
POMT2 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 2, with brain and eye anomalies | [29] |
Congenital muscular dystrophy-dystroglycanopathy type B 2, with mental retardation | |||
Limb-girdle muscular dystrophy-dystroglycanopathy type C 2 | |||
TMEM5 | Glycosyltransferase | Congenital muscular dystrophy-dystroglycanopathy type A 10, with brain and eye anomalies | [45] |