{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:01:13Z","timestamp":1789894873212,"version":"4.0.1"},"reference-count":8,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,3,26]],"date-time":"2018-03-26T00:00:00Z","timestamp":1522022400000},"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":[[2018,5,29]]},"abstract":"<jats:p>Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase ( SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features.<\/jats:p>","DOI":"10.3233\/jnd-170265","type":"journal-article","created":{"date-parts":[[2018,3,27]],"date-time":"2018-03-27T15:53:04Z","timestamp":1522165984000},"page":"257-260","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":20,"title":["Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei"],"prefix":"10.1177","volume":"5","author":[{"given":"Xavi\u00e8re","family":"Lornage","sequence":"first","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Illkirch, France"},{"name":"INSERM U1258, Illkirch, France"},{"name":"CNRS, UMR7104, Illkirch, France"},{"name":"Universit\u00e9 de Strasbourg, Strasbourg, 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