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Article

Segregation distortion of the CTG repeats at the myotonic dystrophy locus.

American journal of human genetics - 1 Jul 1996

Chakraborty R, Stivers D N, Deka R, Yu L M, Shriver M D, Ferrell R E

Abstract excerpt

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is caused by a CTG-repeat expansion, with affected individuals having > or = 50 repeats of this trinucleotide, at the DMPK locus of human chromosome 19q13.3. Severely affected individuals die early in life; the milder form of this disease reduces reproductive ability. Alleles in the normal range of CTG repeats are not as unstable as the (CTG)(>...

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Source

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Identifiers

PMID: 8659513
PMCID: PMC1915088

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Segregation distortion of the CTG repeats at the myotonic dystrophy locus.PMID 8659513Read ↗

Dynamic balance of segregation distortion and selection maintains normal allele sizes at the myotonic dystrophy locus.Semantic proximity Read ↗

Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus.Semantic proximity Read ↗

[Molecular genetics of myotonic dystrophy--population genetics of the CTG repeat expansion of the MTPK gene].Semantic proximity Read ↗

Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos.Semantic proximity Read ↗

Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Semantic proximity Read ↗

Normal variation at the myotonic dystrophy locus in global human populations.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 ↗

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

High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations.Semantic proximity Read ↗

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

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