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.

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