{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:46:33Z","timestamp":1792658793795,"version":"4.5.0"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T00:00:00Z","timestamp":1743292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T00:00:00Z","timestamp":1743292800000},"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":["Euro J of Neurology"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non\u2010progressive muscle weakness. The phenotypic spectrum is wide, ranging from severe early onset forms to milder and later onset conditions. Data regarding the disease trajectory of CMyo in adult patients are lacking. Here, we describe the clinical, myopathological, and genetic features of a large cohort of adult CMyo patients to facilitate their management in adulthood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Global data of a cohort of 142 myopathologically and genetically defined adult patients, 76 women and 66 men, followed at Institute of Myology of the Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital, were retrospectively analyzed focusing on muscular phenotype, cardiac, and respiratory assessment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      RYR1\n                      <jats:italic>\u2010<\/jats:italic>\n                      related CMyo was the most represented entity (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200965, 45%), followed by DNM2\u2010related CMyo (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200926, 18%). Eighty\u2010two percent of patients presented with a prenatal, infancy or childhood onset, including delayed motor milestones. An adult onset, defined as &gt;\u200918\u2009years (median age 43\u2009years), was identified in 15% of patients (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200918). Fifteen percent of patients were wheelchair\u2010bound. The poorest respiratory outcome was found in SELENON\u2010related CMyo patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This observational study provides long\u2010term data on disease progression in CMyo. Adult CMyo patients generally presented mild motor disability at follow\u2010up. Nevertheless, a subset of patients experienced loss of gait and severe respiratory failure. CMyo should be considered in the differential diagnosis of adult\u2010onset myopathies due to the rare but possible late\u2010onset forms.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70109","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T21:23:17Z","timestamp":1743456197000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age"],"prefix":"10.1111","volume":"32","author":[{"given":"Michela","family":"Bisciglia","sequence":"first","affiliation":[{"name":"Universit\u00e9 Libre de Bruxelles (ULB), H\u00f4pital Universitaire de Bruxelles (H.U.B), CUB H\u00f4pital Erasme, Service de Neurologie, Centre de R\u00e9f\u00e9rence Neuromusculaire  Bruxelles Belgium"},{"name":"APHP\u2010GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Institut de Myologie Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianmarco","family":"Severa","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Est Cr\u00e9teil, Inserm, U955, IMRB  Cr\u00e9teil France"},{"name":"Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma Beatriz","family":"Romero","sequence":"additional","affiliation":[{"name":"APHP\u2010GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Institut de Myologie Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire  Paris France"},{"name":"APHP\u2010GH Piti\u00e9\u2010Salp\u00eatri\u00e8re, Institut de Myologie Laboratoire de Pathologie Musculaire Risler  Paris France"},{"name":"Sorbonne Universit\u00e9, INSERM, Myology Institute, GHU Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris 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