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Article

Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.

Clinical genetics - 1 Jan 2000

Marchini C, Lonigro R, Verriello L, Pellizzari L, Bergonzi P, Damante G

Abstract excerpt

Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of individual clinical manifestations in the same patients are yet scarce. In this study the number...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10733240
DOI: 10.1034/j.1399-0004.2000.570112.x

Genes

DMPK

Provenance

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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