Phenotypic expression of the myotonic dystrophy gene in monozygotic twins.

Dubel, J R; Armstrong, R M; Perryman, M B; Epstein, H F; Ashizawa, T · Neurology · 1992

case_series · Level IV

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Abstract

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.

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