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 )

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