autosomal recessive limb-girdle muscular dystrophy type 2E

Term ID

DOID:0110279

Synonyms

• Beta-sarcoglycanopathy
• LGMD2E
• Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
• muscular dystrophy, limb-girdle, type 2E

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/7581448

References

• ICD10CM:G71.0
• OMIM:604286
• ORDO:119

Ontology

Human Disease   ( DOID:0110279 )