autosomal dominant limb-girdle muscular dystrophy type 1

Term ID

DOID:0110305

Synonyms

• autosomal dominant limb-girdle muscular dystrophy type 1E
• LGMD1D
• muscular dystrophy limb-girdle type 1D
• muscular dystrophy limb-girdle type 1E

Definition

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/22334415

References

• ICD10CM:G71.0
• OMIM:603511
• ORDO:34517

Ontology

Human Disease   ( DOID:0110305 )