Abstract
Background: FKTN is a responsible gene for Fukuyama-type congenital muscular dystrophy, which is characterized by severe congenital muscular dystrophy with brain anomalies. We previously reported that FKTN mutations also can cause dilated cardiomyopathy. These patients showed normal intelligence, minimal muscle weakness, and high serum CK level. On the other hand, we recently reported low incidence of fukutinopathy among patients with idiopathic cardiomyopathy, raising a possibility that fukutinopathy may be associated with a cardiomyopathy-plus-myopathy phenotype but not with a cardiomyopathy-only phenotype.
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