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Am J Hum Genet. 1992 Jul;51(1):10-6.

Anticipation in myotonic dystrophy: new light on an old problem.

Author information

1
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, United Kingdom.

Erratum in

  • Am J Hum Genet 1992 Oct;51(4):942.

Abstract

The concept of anticipation, the occurrence of a genetic disorder at progressively earlier ages in successive generations, has been debated from the early years of this century, with myotonic dystrophy as the most striking example. Throughout most of this period there has been controversy as to whether the phenomenon resulted from observational and ascertainment biases or reflected a more fundamental mechanism. The recent discovery of inherited unstable DNA sequences, first in fragile-X mental retardation and now in myotonic dystrophy, not only confirms that anticipation indeed has a true biological basis but provides a specific molecular mechanism for it; this discovery can explain many of the puzzling anomalies in the inheritance of myotonic dystrophy and may prove relevant to comparable problems in other genetic disorders.

PMID:
1609789
PMCID:
PMC1682874
[Indexed for MEDLINE]
Free PMC Article

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