autosomal dominant limb-girdle muscular dystrophy type 2

Term ID

DOID:0110304

Synonyms

• autosomal dominant limb-girdle muscular dystrophy type 1F
• LGMD1F
• muscular dystrophy limb-girdle type 1F

Definition

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (2)

References

• ICD10CM:G71.0
• OMIM:608423
• ORDO:55595

Ontology

Human Disease   ( DOID:0110304 )