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Article

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

Science (New York, N.Y.) - 5 Feb 1993

O'Hoy K L, Tsilfidis C, Mahadevan M S, Neville C E, Barceló J, Hunter A G, Korneluk R G

Abstract excerpt

Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range...

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Identifiers

PMID: 8094260
DOI: 10.1126/science.8094260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.PMID 8094260Read ↗

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Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.Semantic proximity Read ↗

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.Semantic proximity Read ↗

Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.Semantic proximity Read ↗

Genotype-phenotype correlation in myotonic dystrophy.Semantic proximity Read ↗

A dynamic trinucleotide repeat (TNR) expansion in the DMD geneSemantic proximity Read ↗

Unstable DNA sequence in myotonic dystrophy.Semantic proximity Read ↗

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Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.Semantic proximity Read ↗

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