{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:57:54Z","timestamp":1773791874590,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the<jats:italic>GNE<\/jats:italic>gene. An estimated prevalence of 1~21\/1,000,000\u00a0leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although<jats:italic>GNE<\/jats:italic>, which is the mutated gene responsible for the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the clinicopathological\u2010genetic spectrum of<jats:italic>GNE<\/jats:italic>mutant patients is still unclear and expanding. This study presents ten unrelated patients with GNE myopathy, discovering five novel missense mutations. Clinical, electrophysiological, imaging, pathological and genetic data are presented in a retrospective manner. Interestingly, several patients in the cohort were found to have peripheral neuropathy and inflammatory cell infiltration in muscle biopsies, which have seldom been reported. This study, conducted by a neuromuscular centre in China, is the first attempt to highlight these abnormal clinicopathological features and associate them with genetic mutations in GNE myopathy.<\/jats:p>","DOI":"10.1111\/jcmm.16978","type":"journal-article","created":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T10:46:15Z","timestamp":1634899575000},"page":"10494-10503","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Expanding the clinicopathological\u2010genetic spectrum of GNE myopathy by a Chinese neuromuscular centre"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3796-0139","authenticated-orcid":false,"given":"Kai\u2010Yue","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Neurology Xiangya Hospital Central South University Changsha China"},{"name":"Clinic Medicine of 8\u2010year Program Xiangya School of Medicine Central South University 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