A CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY WITH DILATED CARDIOMYOPATHY BUT NO SKELETAL-MUSCLE SYMPTOM

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 (DR PD) 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.