Catalog

Limb-girdle muscular dystrophy 2Q, plectin deficiency

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2Q, plectin deficiency – http://id.who.int/icd/entity/208250225

Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous mutation in the PLEC1 gene. It is characterised by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence.