Term Name: | autosomal recessive limb-girdle muscular dystrophy type 23 |
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Synonyms: | LGMDR23 |
Definition: | An autosomal recessive limb-girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties that has_material_basis_in y homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. |
Ontology: | Human Disease [DOID:0061132] ( DOID:0061132 ) |