筋ジストロフィー・ジストログリカノパチー B 型 [DS:H01960] 先天性筋ジストロフィー [DS:H00590] 筋ジストロフィー・ジストログリカノパチー [DS:H02307]
概要
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.
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
タイトル
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.
