Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation

Limb-girdle muscular dystrophy LGMD21 is caused by mutations in the fukutin-related protein (FKRP) gene. Clinically, LGMD21 exhibits a great phenotypic variability ranging from severe, rapidly progressive weakness and wasting of the limb-girdle muscles to mild disorders. Here, we present three siblings without clinical signs of muscle dystrophy, but with dilated cardiomyopathy. Elevated serum creatine kinase level and partial fatty degeneration of muscles on MR1 indicated subclinical involvement of skeletal muscles. The patients were homozygous for the common C826A mutation in the FKRP gene. Although cardiac involvement in patients with clinically typical LGMD21 was previously described, no patient with dilated cardiomyopathy as the only clinical manifestation of the FKRP mutation was reported so far. (c) 2005 Elsevier B.V. All rights reserved.