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Article

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.

PloS one - 1 Jan 2020

Rübben Albert, Wahl Renate Ursula, Eggermann Thomas, Dahl Edgar, Ortiz-Brüchle Nadina, Cacchi Claudio

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the catenin-β gene (CTNNB1) could be demonstrated in most non-syndromic pilomatricomas. In order to gain insight into the...

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Identifiers

PMID: 32155193
DOI: 10.1371/journal.pone.0230003
PMCID: PMC7064234

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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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Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype.PMID 32155193Read ↗

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