{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T06:53:36Z","timestamp":1777013616270,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T00:00:00Z","timestamp":1773360000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Actinopathies are myopathies associated with pathogenic variants in\n                      <jats:italic>ACTA1<\/jats:italic>\n                      , a gene encoding the skeletal alpha\u2010actin protein. Although patients most frequently have a severe congenital myopathy, an important clinical and myopathological variability has been described. Recently, a scapuloperoneal myopathy phenotype associated with\n                      <jats:italic>ACTA1<\/jats:italic>\n                      has been reported. Here, we present a Russian woman with a late\u2010onset, slowly progressive, scapuloperoneal actinopathy associated with an unpublished heterozygous pathogenic\n                      <jats:italic>ACTA1<\/jats:italic>\n                      variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed a thorough analysis of clinical, muscle imaging, muscle biopsy, genetic, protein and cardiac alpha\u2010actin expression data from a 65\u2010year\u2010old woman with a scapuloperoneal myopathy phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Disease onset was at around 30\u2009years with proximal lower limbs muscle weakness, which slowly progressed towards an upper and lower limb distal involvement with prominent weakness of the fourth and fifth finger extensors. A muscle MRI showed a symmetric axial involvement, while lower limbs sections evidenced a severe symmetric involvement of\n                      <jats:italic>quadriceps<\/jats:italic>\n                      and\n                      <jats:italic>biceps femoris<\/jats:italic>\n                      long head, and a symmetric involvement of medial\n                      <jats:italic>gastrocnemius<\/jats:italic>\n                      associated with a right\n                      <jats:italic>tibialis anterior<\/jats:italic>\n                      involvement. Muscle biopsy showed cores and rods. The patient harboured the unpublished NM_001100.4:c.1001C\u2009&gt;\u2009T, p.(Pro334Leu)\n                      <jats:italic>ACTA1<\/jats:italic>\n                      variant. Immunofluorescence and western blot studies showed an increased expression of cardiac alpha\u2010actin, an actin isoform which is normally predominant in the prenatal skeletal muscles and adult heart muscle, suggesting a possible role of this isoform in milder actinopathy phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We report a milder, late\u2010onset, slowly progressive scapuloperoneal myopathy phenotype with cores and rods and cardiac alpha\u2010actin overexpression, thus expanding the spectrum of actinopathies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.70067","type":"journal-article","created":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T02:46:20Z","timestamp":1773456380000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>ACTA1<\/i>\n                    \u2010Related Adult\u2010Onset Scapuloperoneal Myopathy With Cores and Rods"],"prefix":"10.1111","volume":"52","author":[{"given":"Alexandru","family":"Caramizaru","sequence":"first","affiliation":[{"name":"Regional Center for Medical Genetics Dolj  Craiova Romania"},{"name":"Medical Genetics Department University of Medicine and Pharmacy of Craiova  Craiova Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Onn\u00e9e","sequence":"additional","affiliation":[{"name":"University Paris Est Cr\u00e9teil, Inserm, U955, IMRB  Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergey","family":"Nikitin","sequence":"additional","affiliation":[{"name":"Research Center for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amelia","family":"Dobrescu","sequence":"additional","affiliation":[{"name":"Regional Center for Medical Genetics Dolj  Craiova Romania"},{"name":"Medical Genetics Department University of Medicine and Pharmacy of Craiova  Craiova Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianmarco","family":"Severa","sequence":"additional","affiliation":[{"name":"University Paris Est Cr\u00e9teil, Inserm, U955, IMRB  Cr\u00e9teil France"},{"name":"Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7023-7378","authenticated-orcid":false,"given":"Aysylu","family":"Murtazina","sequence":"additional","affiliation":[{"name":"Research Center for Medical Genetics  Moscow Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Institut de Myologie  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pascal","family":"Lefaucheur","sequence":"additional","affiliation":[{"name":"Excitabilit\u00e9 Nerveuse et Th\u00e9rapeutique, Facult\u00e9 de M\u00e9decine de Cr\u00e9teil Universit\u00e9 Paris\u2010Est\u2010Cr\u00e9teil, H\u00f4pital Henri Mondor  Cr\u00e9teil France"},{"name":"Service de Physiologie\u2010Explorations Fonctionnelles, H\u00f4pital Henri Mondor  Cr\u00e9teil France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert\u2010Yves","family":"Carlier","sequence":"additional","affiliation":[{"name":"AP\u2010HP, GHU Paris\u2010Saclay, DMU Smart Imaging, Medical Imaging Department Raymond\u2010Poincar\u00e9 Teaching Hospital  Garches France"},{"name":"UMR 1179 End:Icap, UVSQ\u2010Paris\u2010Saclay University  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"APHP, Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, Service de Biochimie M\u00e9tabolique, U. 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