Catalog

Limb-girdle muscular dystrophy 2E, beta-sarcoglycan deficiency

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2E, beta-sarcoglycan deficiency – http://id.who.int/icd/entity/867128398

Autosomal recessive limb-girdle muscular dystrophy type 2E belongs to a group of genetically determined, progressive muscle weakness disorders, in which the pelvic or shoulder girdle musculature is predominantly or primarily involved. LGMD 2E is transmitted as an autosomal recessive form and is characterised by scapular winging and calf hypertrophy.