Muscular dystrophy-dystroglycanopathy type B [DS:H01960] Congenital muscular dystrophies (CMD/MDC) [DS:H00590] Muscular dystrophy-dystroglycanopathy [DS:H02307]
Description
Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused by mutations in the FKRP gene. Clinical manifestations include inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H01961 Congenital muscular dystrophy type 1C
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F
Title
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
