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Article

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Human molecular genetics - 1 Oct 1992

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K

Abstract excerpt

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat in a sequence encoding a cAMP-dependent protein kinase. The normal copy number of 5-35 repeats is exceeded in DM patients, with the size of the expansion broadly correlating with the severity of symptoms experienced. In most families reported, the unstable DNA sequence has increased in size on transmission to...

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Source

Identifiers

PMID: 1307246
DOI: 10.1093/hmg/1.7.467

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.PMID 1307246Read ↗

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

Unstable DNA sequence in myotonic dystrophy.Semantic proximity Read ↗

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

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

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

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.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 ↗

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

Molecular genetics and genetic testing in myotonic dystrophy type 1.Semantic proximity Read ↗

An unstable triplet repeat in a gene related to myotonic muscular dystrophy.Semantic proximity Read ↗

[Genetic diseases and unstable expansions of trinucleotide repeats].Semantic proximity Read ↗

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.Semantic proximity Read ↗

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