{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T10:49:45Z","timestamp":1783334985928,"version":"3.54.6"},"reference-count":14,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2024,7,20]],"date-time":"2024-07-20T00:00:00Z","timestamp":1721433600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,7,20]]},"abstract":"<jats:p>HNRNPA1 variants are known to cause degenerative motoneuron and muscle diseases which manifests in middle age or later. We report on a girl with early childhood onset, rapidly progressive generalized myopathy including ultrastructural findings in line with a proteinopathy. Proteomics of patient-derived muscle and combined screening of genomic data for copy number variations identified a HNRNPA1 de novo intragenic deletion as causative for the phenotype. Our report expands the spectrum of HNRNPA1-related diseases towards early-childhood onset and adds HNRNPA1 to the growing list of ALS and myopathy genes for which certain mutations may cause severe pediatric phenotypes.<\/jats:p>","DOI":"10.3233\/jnd-240050","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T12:33:44Z","timestamp":1723206824000},"page":"1131-1137","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>HNRNPA1 de novo<\/i>\n                    Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy"],"prefix":"10.1177","volume":"11","author":[{"given":"Andreas","family":"Roos","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Duisburg\u2013Essen, Essen, Germany"},{"name":"Department of Neurology, Heinrich Heine University D\u00fcsseldorf, D\u00fcsseldorf, Germany"},{"name":"Department of Medicine, Division of Neurology, Children\u2019 s Hospital of Eastern Ontario Research Institute, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"H\u00e4usler","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Neuropediatrics and Social Pediatrics, RWTH Aachen University Hospital, Aachen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laxmikanth","family":"Kollipara","sequence":"additional","affiliation":[{"name":"Leibniz-Institut f\u00fcr Analytische Wissenschaften \u2013 ISAS \u2013 e.V. 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