Catalog

Limb-girdle muscular dystrophy-dystroglycanopathy C7

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy-dystroglycanopathy C7 – http://id.who.int/icd/entity/787117844

Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase domain-containing protein. It is characterised by childhood onset of proximal muscle weakness affecting the lower limbs more than the upper limbs.