Preferred Label : Limb-girdle muscular dystrophy 2Q, plectin deficiency;
ICD-11 definition : Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous
mutation in the PLEC1 gene. It is characterized by early childhood onset of proximal
muscle weakness and atrophy without skin involvement. One family has shown rapid progression
of the disorder in adolescence.;
ICD-11 synonym : LGMD2Q - [limb-girdle muscular dystrophy 2Q]; limb-girdle muscular dystrophy 2Q;
ICD-11 acronym : LGMD2Q;
Origin ID : 208250225;
Automatic exact mappings (from CISMeF team)
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by homozygous
mutation in the PLEC1 gene. It is characterized by early childhood onset of proximal
muscle weakness and atrophy without skin involvement. One family has shown rapid progression
of the disorder in adolescence.
