Catalog

Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation

No MMS code

Link to WHO Definition

Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation – http://id.who.int/icd/entity/679025559

Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. It is caused by mutations in the gene encoding fukutin-related protein (FKRP).