Term Name: | autosomal recessive limb-girdle muscular dystrophy type 29 |
---|---|
Synonyms: | LGMDR29 |
Definition: | An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. |
Ontology: | Human Disease [DOID:0061134] ( DOID:0061134 ) |