Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a5, is related to muscular dystrophy-dystroglycanopathy , type a, 5 and autosomal recessive limb-girdle muscular dystrophy type 2f. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways is Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1. Affiliated tissues include eye and brain, and related phenotype is Increased IL-8 secretion.