autosomal recessive limb-girdle muscular dystrophy type 2F

Term ID

DOID:0110280

Synonyms

• delta-sarcoglycanopathy
• LGMD2F
• limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). https://www.ncbi.nlm.nih.gov/pubmed/8841194

References

• ICD10CM:G71.0
• OMIM:601287
• ORDO:219

Ontology

Human Disease   ( DOID:0110280 )