A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

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Authors: Alfonsina Ballester‐Lopez, Emma Koehorst, Miriam Almendrote, Alicia Martínez‐Piñeiro, Giuseppe Lucente, Ian Linares‐Pardo, Judit Núñez‐Manchón, Nicolau Guanyabens, Antoni Cano, Alejandro Lucia, Gayle Overend, Sarah A. Cumming, Darren G. Monckton, Teresa Casadevall, Irina Isern, Josep Sánchez‐Ojanguren, Albert Planas, Agustí Rodríguez‐Palmero, Laura Monlleó‐Neila, Guillem Pin

Journal title: Human Mutation

Journal number: 41/2

Journal publisher: John Wiley & Sons Inc.

Published year: 2020

Published pages: 420-431

DOI identifier: 10.1002/humu.23932

ISSN: 1059-7794