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

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 caten...

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Detalles Bibliográficos
Autores principales: Rübben, Albert, Wahl, Renate Ursula, Eggermann, Thomas, Dahl, Edgar, Ortiz-Brüchle, Nadina, Cacchi, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064234/
https://www.ncbi.nlm.nih.gov/pubmed/32155193
http://dx.doi.org/10.1371/journal.pone.0230003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064234/
https://www.ncbi.nlm.nih.gov/pubmed/32155193
http://dx.doi.org/10.1371/journal.pone.0230003

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