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. 1994 Feb;31(2):130–132. doi: 10.1136/jmg.31.2.130

Origin of a regressed myotonic dystrophy allele.

M Giordano 1, M S De Angelis 1, R Mutani 1, P M Richiardi 1
PMCID: PMC1049674  PMID: 8182718

Abstract

A new case of regression of the CTG copy number in the myotonic dystrophy allele was observed in a 7 year old boy. His affected father had an expanded allele of about 100 repeats in his lymphocyte DNA while the child showed a 60 repeat allele, of the same size as the present in the grandfather. Analysis of the father's sperm DNA allowed us to detect an expanded fragment of approximately the same size (62 repeats) as that present in the child's and grandfather's lymphocytes. This fragment was not detectable in the father's lymphocytes. Thus the regression is constitutive in the child, being already present in his father's germline. It is therefore likely that the regressed allele is present in all the tissues of the child, allowing a favourable prognosis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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