# muscle-eye-brain disease

> disease

**Wikidata**: [Q3508572](https://www.wikidata.org/wiki/Q3508572)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Muscle–eye–brain_disease)  
**Source**: https://4ort.xyz/entity/muscle-eye-brain-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
3. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
4. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
5. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
6. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan