Muscular dystrophy-dystroglycanopathy type B5
Muscular dystrophy-dystroglycanopathy type B5
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Also known as congenital muscular dystrophy-FKRP related, MDC1C, MDDGB5, muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 — per MONDO