autosomal recessive limb-girdle muscular dystrophy type 2B

Term ID

DOID:0110276

Synonyms

• LGMD2B
• LGMD3
• limb-girdle muscular dystrophy due to dysferlin deficiency
• limb-girdle muscular dystrophy type 3

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/9731527

References

• ICD10CM:G71.0
• OMIM:253601
• ORDO:268

Ontology

Human Disease   ( DOID:0110276 )