{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:56:48Z","timestamp":1791086208598,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100021566","name":"Fundaci\u00f3n Isabel Gemio","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100021566","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI19\/00468"],"award-info":[{"award-number":["PI19\/00468"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/01532"],"award-info":[{"award-number":["PI21\/01532"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/00598"],"award-info":[{"award-number":["PI22\/00598"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015496","name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015496","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003086","name":"Eusko Jaurlaritza","doi-asserted-by":"publisher","award":["IT1584\u201022"],"award-info":[{"award-number":["IT1584\u201022"]}],"id":[{"id":"10.13039\/501100003086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003086","name":"Eusko Jaurlaritza","doi-asserted-by":"publisher","award":["PRE_2019_1_0339"],"award-info":[{"award-number":["PRE_2019_1_0339"]}],"id":[{"id":"10.13039\/501100003086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003086","name":"Eusko Jaurlaritza","doi-asserted-by":"publisher","award":["PRE_2022_2_0224"],"award-info":[{"award-number":["PRE_2022_2_0224"]}],"id":[{"id":"10.13039\/501100003086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003086","name":"Eusko Jaurlaritza","doi-asserted-by":"publisher","award":["RF\/2019\/001"],"award-info":[{"award-number":["RF\/2019\/001"]}],"id":[{"id":"10.13039\/501100003086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012295","name":"NIHR Newcastle Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011033","name":"Agencia Estatal de Investigaci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011033","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SNUPN<\/jats:italic>\n                      \u2010related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described. Here we report the first family with\n                      <jats:italic>SNUPN<\/jats:italic>\n                      \u2010related muscular dystrophy presenting an adult\u2010onset myopathy as well as novel ultrastructural findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical evaluation, muscle and brain magnetic resonance imaging (MRI), and muscle histopathological and electron microscopy analysis were conducted. Functional studies including protein modelling and interaction, immunofluorescence and splicing analysis were also performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two siblings carrying two novel deleterious variants in the\n                      <jats:italic>SNUPN<\/jats:italic>\n                      gene (p.Arg27Cys and p.Cys174Tyr) showed adult\u2010onset proximo\u2010distal and axial muscle weakness with early respiratory involvement. One patient presented with asymptomatic cerebellar atrophy. Muscle MRI identified involvement in the paravertebral, triceps brachii, sartorius and gracilis muscles. The histopathology revealed dystrophic changes and an abnormal pattern of cytoskeletal and myofibrillar proteins, while electron microscopy disclosed the proliferation of granules and vesicles associated with features of nuclear envelope and sarcolemma remodelling. Functional studies showed that\n                      <jats:italic>SNUPN<\/jats:italic>\n                      variants impair snurportin\u20101 function through reduced binding affinity to importin\u2010\u03b2 and impaired folding, leading to disturbed nuclear import of small nuclear ribonucleoproteins and downstream splicing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      Our work expands the phenotype of\n                      <jats:italic>SNUPN<\/jats:italic>\n                      \u2010related muscular dystrophy and provides more insights into their pathological profile. We advise\n                      <jats:italic>SNUPN<\/jats:italic>\n                      testing in patients with late\u2010onset proximo\u2010distal and axial weakness with early respiratory impairment and features reminding inclusion body myositis (IBM). Granular deposits suggestive of biomolecular condensates perturbed cell organelle traffic and membrane homeostasis, opening new avenues to understand the pathomechanisms involved in this novel disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70211","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T06:57:39Z","timestamp":1759820259000},"page":"285-295","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>SNUPN<\/i>\n                    \u2010Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights"],"prefix":"10.1002","volume":"13","author":[{"given":"Nuria","family":"Muelas","sequence":"first","affiliation":[{"name":"Neuromuscular Diseases Unit, Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe  Valencia Spain"},{"name":"Neuromuscular and Ataxias Research Group Instituto de 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