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Monozygotic female twin carriers discordant for the clinical manifestations of Duchenne muscular dystrophy

Departments of Neurology (Dr. Chutkow). Medicine (Division of Medical Genetics) (Dr. Edwards). Pathology (Dr. Heffner), and Rehabilitation Medicine (Dr. Czyrny), State University of New York at Buffalo School of Medicine, Buffalo; and the Department of Neurology (Dr. Hyser), University of Rochester School of Medicine, Rochester, NY.

We studied twin sisters, in their sixth decade, who were obligate carriers of Duchenne dystrophy. One had a slowly progressing limb-girdle myopathy since her mid-20s. The other sister showed no evidence of neuromuscular disease by history or on physical examination but had high serum CK values and degeneration and regeneration of fibers in a muscle biopsy. Otherwise, they were phenotypically identical, karyotypically normal females with cytogenetically normal X-chromosomes. Based on red cell and HLA loci antigen determinations, there was a 99.2% probability that they were monozygotic. The mutant gene segregating in the family is probably linked to the Xp21 DNA marker pERT87.

Address correspondence and reprint requests to Dr. Chutkow, Department of Neurology, SUNYAB School of Medicine, 462 Grider Street, Buffalo, NY 14215.

Presented in part at the thirty-eighth annual meeting of the American Academy of Neurology, New Orleans, LA, April 1986.

Received May 19, 1986. Accepted for publication in final form October 18, 1986.

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