| | |  | | | | Record from Web of Science® | | | | | | |
| ANTICIPATION IN MYOTONIC-DYSTROPHY - NEW LIGHT ON AN OLD PROBLEM |
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| Author(s): HARPER PS, HARLEY HG, REARDON W, SHAW DJ |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 51 Issue: 1 Pages: 10-16 Published: JUL 1992 |
| Times Cited: 191 References: 42 |
| 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. |
| Document Type: Review |
| Language: English |
| Reprint Address: HARPER, PS (reprint author), UNIV HOSP WALES, INST MED GENET, CARDIFF CF4 4XW, S GLAM WALES |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: JA467 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |