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Article

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.

Journal of neurology - 1 Apr 2013

Huin Vincent, Vasseur Francis, Schraen-Maschke Susanna, Dhaenens Claire-Marie, Devos Patrick, Dupont Kathy, Sergeant Nicolas, Buée Luc, Lacour Arnaud, Hofmann-Radvanyi Hélène, Sablonnière Bernard

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystemic autosomal dominant disorder characterized by a highly variable phenotype and caused by an unstable CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Longer CTG repeat expansions often correlate with an anticipated age at onset and CTG repeat number may account for 45-60 % of the variance in disease...

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Source

Identifiers

PMID: 23161457
DOI: 10.1007/s00415-012-6740-y

Genes

MBNL1
DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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