# lamin A/C congenital muscular dystrophy

> congenital muscular dystrophy characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the LMNA gene on chromosome 1q22

**Wikidata**: [Q27835675](https://www.wikidata.org/wiki/Q27835675)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/LMNA-related_congenital_muscular_dystrophy)  
**Source**: https://4ort.xyz/entity/lamin-a-c-congenital-muscular-dystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160789/MONDO_0013178)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)