Metadata | |
---|---|
ID | DOID:0110306 |
Name | autosomal dominant limb-girdle muscular dystrophy type 3 |
Definition | An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. https://www.ncbi.nlm.nih.gov/pubmed/24647604 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1G [EXACT] LGMD1G [EXACT] muscular dystrophy limb-girdle type 1G [EXACT] |
Parent Relationships |