Origin of a regressed myotonic dystrophy allele.

doi:10.1136/jmg.31.2.130

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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. A...

Topics

Adult
Aged
Alleles
Child
DNA
Female
Germ-Line Mutation
Humans
Male
Middle Aged
Myotonic Dystrophy
Oligodeoxyribonucleotides
Pedigree
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
Spermatozoa

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