autosomal recessive limb-girdle muscular dystrophy type 2X

Term ID

DOID:0110290

Synonyms

• LGMD2X
• muscular dystrophy, limb-girdle, type 2X

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/26642364

References

• MIM:616812
• ORDO:476084

Ontology

Human Disease   ( DOID:0110290 )