autosomal recessive limb-girdle muscular dystrophy type 2Q

Term ID

DOID:0110285

Synonyms

• autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
• LGMD2Q
• muscular dystrophy, limb-girdle, type 2Q

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. https://www.ncbi.nlm.nih.gov/pubmed/21109228

References

• ICD10CM:G71.0
• MIM:613723
• ORDO:254361

Ontology

Human Disease   ( DOID:0110285 )