Article
Origin of a regressed myotonic dystrophy allele.
Journal of medical genetics - 1 Feb 1994
Giordano M, De Angelis M S, Mutani R, Richiardi P M
Abstract excerpt
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)...
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