Term Name: | autosomal recessive limb-girdle muscular dystrophy type 27 |
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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. |
Ontology: | Human Disease [DOID:0061133] ( DOID:0061133 ) |