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Article

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

American journal of medical genetics - 1 Feb 1993

Hunter A G, Jacob P, O'Hoy K, MacDonald I, Mettler G, Tsilfidis C, Korneluk R G

Abstract excerpt

Recently an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age-of-onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown a striking trend toward amplification of the size of the CTG repeat during transmission from parent to child. The...

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Source

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PMID: 8434633
DOI: 10.1002/ajmg.1320450330

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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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Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.PMID 8434633Read ↗

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

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

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.Semantic proximity Read ↗

CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.Semantic proximity Read ↗

Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in OffspringSemantic proximity Read ↗

Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Semantic proximity Read ↗

Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).Semantic proximity Read ↗

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.Semantic proximity Read ↗

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.Semantic proximity Read ↗

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

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Semantic proximity Read ↗

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.Semantic proximity Read ↗

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