Article

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

2019-11-15

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 mole...

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Literature Corpus work: f808b2da-e538-5ddc-82db-6d6a2f3dabcd
DOI: 10.1101/844647

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