Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Zachary Simmons, Charles A. Thornton, William K. Seltzer, C. Sue Richards

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

The genetic basis for myotonic dystrophy (DM) is a CTG trinucleotide repeat expansion. The number of CTG repeats commonly increases in affected individuals of successive generations, in association with anticipation. We identified a large DM family in which multiple members had minimal CTG repeat expansions, and in which the number of CTG repeats remained in the minimally expanded range through at least three, and possibly four, generations. This relative stability of minimal CTG repeat expansions may help to maintain the DM mutation in the population.

Original languageEnglish (US)
Pages (from-to)1501-1504
Number of pages4
JournalNeurology
Volume50
Issue number5
DOIs
Publication statusPublished - May 1998

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All Science Journal Classification (ASJC) codes

  • Clinical Neurology

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