Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

J. R. Dubel; R. M. Armstrong; M. B. Perryman; H. F. Epstein; Tetsuo Ashizawa

doi:10.1212/wnl.42.9.1815

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

J. R. Dubel, R. M. Armstrong, M. B. Perryman, H. F. Epstein, Tetsuo Ashizawa

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1815-1817
Number of pages	3
Journal	Neurology
Volume	42
Issue number	9
DOIs	https://doi.org/10.1212/wnl.42.9.1815
State	Published - Sep 1992

ASJC Scopus subject areas

Clinical Neurology

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title = "Phenotypic expression of the myotonic dystrophy gene in monozygotic twins",

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.",

author = "Dubel, {J. R.} and Armstrong, {R. M.} and Perryman, {M. B.} and Epstein, {H. F.} and Tetsuo Ashizawa",

year = "1992",

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AU - Armstrong, R. M.

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AU - Ashizawa, Tetsuo

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N2 - 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.

AB - 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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Phenotypic expression of the myotonic dystrophy gene in monozygotic twins

Abstract

ASJC Scopus subject areas

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