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Article

Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.

Human molecular genetics - 1 Feb 1998

Martorell L, Monckton D G, Gamez J, Johnson K J, Gich I, Lopez de Munain A, Baiget M

Abstract excerpt

The genetic basis of myotonic dystrophy (DM) is the expansion of an unstable CTG repeat in the 34 UTR of the DM protein kinase gene on chromosome 19. One of the principal features of the DM mutation is an extraordinarily high level of somatic mosaicism, due to an extremely high degree of somatic...

Topics

Adult
Age of Onset
Alleles
Child
Chromosomes, Human, Pair 19
Follow-Up Studies
Humans
Infant, Newborn
Leukocytes
Mosaicism
Myotonic Dystrophy
Organ Specificity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Time Factors

Trinucleotide Repeats

Source

Identifiers

PMID: 9425239
DOI: 10.1093/hmg/7.2.307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9425239-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients.PMID 9425239Read ↗

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 ↗

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Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.Semantic proximity Read ↗

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A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.Semantic proximity Read ↗

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