autosomal recessive limb-girdle muscular dystrophy type 2Z

Term ID

DOID:0080762

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. (2)

References

• OMIM:617232
• ORDO:480682

Ontology

Human Disease   ( DOID:0080762 )