autosomal dominant Emery-Dreifuss muscular dystrophy 2

Term ID

DOID:0070247

Synonyms

• autosomal dominant limb-girdle muscular dystrophy type 1B
• EDMD2
• EMD2
• Emery-Dreifuss muscular dystrophy 2, autosomal dominant
• Emery-Dreifuss muscular dystrophy, autosomal dominant
• Hauptmann-Thannhauser muscular dystrophy
• muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
• scapuloilioperoneal atrophy with cardiopathy

Definition

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (3)

References

• ICD10CM:G71.0
• MIM:181350
• ORDO:264

Ontology

Human Disease   ( DOID:0070247 )