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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 instability both within and between different tissues. This instability appears to be biased towards further expansion...

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Identifiers

PMID: 9425239
DOI: 10.1093/hmg/7.2.307

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

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