Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

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Authors: Iruzubieta, Pablo Damborenea, Alberto Ioghen, Mihaela Bajew, Simon Fernandez-Torrón, Roberto Töpf, Ana Herrero-Reiriz, Álvaro Epure, Diana Vill, Katharina Hernández-Laín, Aurelio Manterola, María Azkargorta, Mikel Pikatza-Menoio, Oihane Pérez-Fernandez, Laura García-Puga, Mikel Gaina, Gisela Bastian, Alexandra Streata, Ioana Walter, Maggie C Müller-Felber, Wolfgang Thiele, Simone Moragón

Journal title: Brain

Journal number: Volume 119, Issue 1

Journal publisher: Oxford University Press

Published year: 2024

DOI identifier: 10.1093/brain/awae046

ISSN: 0006-8950