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Article

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.

Genetic testing - 1 Jan 2007

Salehi Leila Baghernajad, Bonifazi Emanuela, Stasio Enrico Di, Gennarelli Massimo, Botta Annalisa, Vallo Laura, Iraci Raniero, Massa Roberto, Antonini Giovanni, Angelini Corrado, Novelli Giuseppe

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. DM1 is caused by expansion of a CTG trinucleotidedaggerrepeat in the gene DMPK. Clinical findings in DM1 span a continuum from mild to severe. Although the CTG repeat correlates with the disease phenotype, caution is used in predicting disease...

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Source

Identifiers

PMID: 17394397
DOI: 10.1089/gte.2006.0511

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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