{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:19:41Z","timestamp":1788520781613,"version":"build-2803163510"},"reference-count":22,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Haploinsufficiency of\n                    <jats:italic toggle=\"yes\">SOX5<\/jats:italic>\n                    causes Lamb\u2013Shaffer syndrome, a rare condition with developmental delay, impaired language and intellectual disability and optic nerve abnormalities. Muscle involvement is poorly characterized. We report a 20-year-old woman with neonatal hypotonia, delayed motor milestones, proximal weakness and learning difficulties. Serum creatine kinase was normal. Electroneuromyography revealed a mild myogenic pattern. Muscle biopsy revealed myopathic changes, with cores and protein aggregates. Whole genome sequencing disclosed a heterozygous pathogenic variant in the\n                    <jats:italic toggle=\"yes\">SOX5<\/jats:italic>\n                    gene. This case expands the phenotypic spectrum of Lamb-Shaffer syndrome, confirming primary muscle involvement with core myopathy.\n                  <\/jats:p>","DOI":"10.1177\/22143602261428296","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T15:48:52Z","timestamp":1772034532000},"page":"1127-1133","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital core myopathy linked to\n                    <i>SOX5<\/i>\n                    : Expanding the phenotypical spectrum of Lamb-Shaffer syndrome"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-7454-7679","authenticated-orcid":false,"given":"Katia","family":"Staedler","sequence":"first","affiliation":[{"name":"Myology Institute, Sorbonne University, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Assistance Publique des H\u00f4pitaux de Paris"},{"name":"Department of Neurology, 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