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Brain Dev. 1995 May-Jun;17(3):202-5.

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

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  • 1Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, (NCNP), Tokoyo, Japan.


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.

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