autosomal recessive limb-girdle muscular dystrophy type 23

Term ID

DOID:0061132

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. https://pubmed.ncbi.nlm.nih.gov/24957499/

References

• MIM:618138

Ontology

Human Disease   ( DOID:0061132 )