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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy Estañ, María Cristina Fernández-Núñez, Elisa Zaki, Maha S Esteban, María Isabel Donkervoort, Sandra Hawkins, Cynthia Tizzano Ferrari, Eduardo Fidel Institut Català de la Salut [Estañ MC] Instituto de Investigaciones Biomédicas "Alberto Sols", Madrid, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. [Fernández-Núñez E] Instituto de Investigaciones Biomédicas "Alberto Sols", Madrid, Spain. [Zaki MS] Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt. [Esteban MI] Departamento de Anatomía Patológica, Hospital Universitario La Paz-IdiPaz-UAM, Madrid, Spain. [Donkervoort S] Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. [Hawkins C] Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada. [Tizzano EF] CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain. Vall d'Hebron Barcelona Hospital Campus Músculs - Malalties Mutació (Biologia) DISEASES::Musculoskeletal Diseases::Muscular Diseases Other subheadings::Other subheadings::Other subheadings::/genetics PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares Otros calificadores::Otros calificadores::Otros calificadores::/genética FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación FXR1; Mutations; Myopathy FXR1; Mutacions; Miopatia FXR1; Mutaciones; Miopatía FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein. 2019-03-22T12:57:11Z 2019-03-22T12:57:11Z 2019-02-15 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, et al. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019;10(1):797. 2041-1723 https://hdl.handle.net/11351/3859 10.1038/s41467-019-08548-9 30770808 WOS:000458755400011 http://hdl.handle.net/11351/3859 eng Nature Communications;10(1) https://www.nature.com/articles/s41467-019-08548-9 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess application/pdf Nature Research Scientia