Congenital muscular dystrophy type 1C

Definition:

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.

References:

[1]. H Topaloglu, et al. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology. 2003 Mar 25;60(6):988-92. [Content Brief]

[2]. M Brockington, et al. 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. Am J Hum Genet. 2001 Dec;69(6):1198-209. [Content Brief]

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