autosomal recessive limb-girdle muscular dystrophy type 2D

Term ID

DOID:0110278

Synonyms

• Alpha-sarcoglycanopathy
• DMDA2
• Duchenne-like autosomal recessive muscular dystrophy type 2
• LGMD2D
• muscular dystrophy, limb-girdle, type 2D
• primary adhalinopathy

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (2)

References

• ICD10CM:G71.0
• MIM:608099
• ORDO:62

Ontology

Human Disease   ( DOID:0110278 )