Term Name: autosomal recessive limb-girdle muscular dystrophy type 2B
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.
Ontology: Human Disease [DOID:0110276]   ( DOID:0110276 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy