autosomal dominant limb-girdle muscular dystrophy type 3

Term ID

DOID:0110306

Synonyms

• autosomal dominant limb-girdle muscular dystrophy type 1G
• LGMD1G
• muscular dystrophy limb-girdle type 1G

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

References

• ICD10CM:G71.0
• OMIM:609115
• ORDO:55596

Ontology

Human Disease   ( DOID:0110306 )