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Article

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

Mathematical biosciences - 1 Jan 1998

Polański A, Chakraborty R, Kimmel M, Deka R

Abstract excerpt

Myotonic dystrophy (DM), an autosomal dominant neurological disorder, is caused by CTG-repeat expansions at the DMPK locus, with affected individuals having > or = 50 repeats of this trinucleotide. Reduced reproductive fitness of affected individuals and decreased viability of congenital DM have...

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Source

Identifiers

PMID: 9401353
DOI: 10.1016/s0025-5564(97)00082-5

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9401353-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Dynamic balance of segregation distortion and selection maintains normal allele sizes at the myotonic dystrophy locus.PMID 9401353Read ↗

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

Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease.Semantic proximity Read ↗

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

A model of compound heterozygous, loss-of-function alleles is broadly consistent with observations from complex-disease GWAS datasetsSemantic proximity Read ↗

Drop of Prevalence after Population Expansion: A lower prevalence for recessive disorders in a random mating population is a transient phenomenon during and after a growth phaseSemantic 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 ↗

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 ↗

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

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

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.Semantic proximity Read ↗

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

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