Term Name: autosomal recessive limb-girdle muscular dystrophy type 2Z
Synonyms: limb-girdle muscular dystrophy 21
Definition: An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
Ontology: Human Disease [DOID:0080762]   ( DOID:0080762 )

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