autosomal recessive limb-girdle muscular dystrophy type 27

Term ID

DOID:0061133

Synonyms

• LGMDR27

Definition

An autosomal recessive limb-girdle muscular dystrophy characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation that has_material_basis_in homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/33861953/

References

• MIM:619566

Ontology

Human Disease   ( DOID:0061133 )