autosomal recessive limb-girdle muscular dystrophy type 29

Term ID

DOID:0061134

Synonyms

• LGMDR29

Definition

An autosomal recessive limb-girdle muscular dystrophy characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs that has_material_basis_in homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24. https://pubmed.ncbi.nlm.nih.gov/38413582/

References

• MIM:620793

Ontology

Human Disease   ( DOID:0061134 )