Congenital Muscular Dystrophy with Intellectual Disability

Congenital Muscular Dystrophy with Intellectual Disability, also known as cmd with intellectual disability, is related to congenital disorder of glycosylation, type iu and myasthenic syndrome, congenital, 10. An important gene associated with Congenital Muscular Dystrophy with Intellectual Disability is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Affiliated tissues include brain and skeletal muscle, and related phenotypes are intellectual disability and elevated circulating creatine kinase concentration