# muscular dystrophy-dystroglycanopathy

> Human disease

**Wikidata**: [Q18553324](https://www.wikidata.org/wiki/Q18553324)  
**Source**: https://4ort.xyz/entity/muscular-dystrophy-dystroglycanopathy


## References

1. Disease Ontology
2. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
3. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
4. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
5. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
6. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
7. New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation
8. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
9. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
10. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
11. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)