autosomal recessive Emery-Dreifuss muscular dystrophy 3

Term ID

DOID:0070248

Synonyms

• EDMD3
• Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Definition

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/10739764

References

• OMIM:616516

Ontology

Human Disease   ( DOID:0070248 )