Congenital muscular dystrophy (CMD) type 1C belongs to a heterogeneous family of inherited disorders involving muscle weakness at birth. It is a severe form of CMD and is characterized by a highly elevated level of serum creatine kinase (CK), early onset hypotonia, calf pseudohypertrophy, delayed or absent motor development and variable cardiomyopathy generally with normal IQ and brain imaging. However, cases have been identified together with mental retardation and cerebellar cysts.