DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive limb-girdle muscular dystrophy type 2Z

Autosomal recessive limb-girdle muscular dystrophy type 2Z [DOID:0080762]

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.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2Z,  autosomal recessive limbgirdle muscular dystrophy type 2Z,  DOID:0080762,  limb-girdle muscular dystrophy 21,  limbgirdle muscular dystrophy 21