DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive limb-girdle muscular dystrophy type 2Q

Autosomal recessive limb-girdle muscular dystrophy type 2Q [DOID:0110285]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene.

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2Q,  autosomal recessive limbgirdle muscular dystrophy type 2Q,  DOID:0110285,  autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency,  LGMD2Q ...