Term Name: autosomal recessive limb-girdle muscular dystrophy type 2Q
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.
Ontology: Human Disease [DOID:0110285]   ( DOID:0110285 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy