Catalog

Congenital muscular dystrophy with integrin deficiency

No MMS code

Link to WHO Definition

Congenital muscular dystrophy with integrin deficiency – http://id.who.int/icd/entity/535444201

Congenital muscular dystrophy with integrin deficiency is a muscle disorder characterised by congenital myopathy and delayed motor milestones. It is caused by mutations of the integrin alpha7 gene (ITGA7), which codes for an important laminin receptor in muscle.