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Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

Department of Neurology, Houston, TX (Drs. Dubel, Armstrong, Epstein, and Ashizawa)
Section of Cardiology, Baylor College of Medicine, Houston, TX (Dr. Perryman)
Veterans Affairs Medical Center, Houston, TX (Drs. Dubel and Ashizawa).

Phenotypic expression of the myotonic dystrophy (DM) gene is highly variable even within the same family. To investigate the importance of genetic and nongenetic factors on phenotypic variability, we studied phenotypic expression in two DM twin sets with monozygosity confirmed by DNA polymorphism analysis. Our observations suggest that genetic factors are primarily responsible for modulating pleiotropic expression of the DM gene.

Supported by Veterans Affairs Merit Review (T.A.).

Address correspondence and reprint requests to Dr. Tetsuo Ashizawa, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030.

Received November 19, 1991. Accepted for publication in final form February 24, 1992.

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