A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom

Abstract

A 29-year-old female developed dilated cardiomyopathy at 20 years of age but with no muscle symptoms. Her 2-year-old son with Duchenne muscular dystrophy (DMD) had no demonstrable deletion in the dystrophin gene, but all fibers except for 5% ‘revertant’ fibers in a muscle biopsy specimen had no dystrophin. Both skeletal and cardiac muscle biopsy specimens from the mother showed a mosaic distribution of dystrophin-positive and -negative fibers, and so she was diagnosed as being a manifesting carrier of DMD. We conclude that, when one encounters a female patient with idiopathic cardiomyopathy with a high serum creatine kinase level, the suspicion of her being a manifesting DMD carrier should be ruled out.