{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:42Z","timestamp":1777857162516,"version":"3.51.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T00:00:00Z","timestamp":1669593600000},"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":[[2023,1,3]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Aim:<\/jats:title>\n                    <jats:p>We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G\/LGMD-R7 in a South-east Asian cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      LGMD2G\/LGMD-R7-telethonin-related is caused by mutations in the\n                      <jats:italic>TCAP<\/jats:italic>\n                      gene that encodes for telethonin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We identified consecutive patients with LGMD2G\/LGMD-R7-telethonin-related, diagnosed at the National Neuroscience Institute (NNI) and National University Hospital (NUH) between January 2000 and June 2021.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>At onset, three patients presented with proximal lower limb weakness, one patient presented with Achilles tendon contractures, and one patient presented with delayed gross motor milestones. At last follow up, three patients had a limb girdle pattern of muscle weakness and two had a facioscapular humeral pattern of weakness. Whole body muscle MRI performed for one patient with a facioscapular-humeral pattern of weakness showed a pattern of muscle atrophy similar to facioscapular-humeral dystrophy. One patient had histological features consistent with myofibrillar myopathy; electron microscopy confirmed the disruption of myofibrillar architecture. One patients also had reduced staining to telethonin antibody on immunohistochemistry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We report the unique clinical and histological features of a Southeast Asian cohort of five patients with LGMD2G\/LGMD-R7-telethonin-related muscular dystrophy and further expand its clinical and histopathological spectrum.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-221517","type":"journal-article","created":{"date-parts":[[2022,11,29]],"date-time":"2022-11-29T11:25:44Z","timestamp":1669721144000},"page":"91-106","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G\/LGMD-R7-Telethonin-Related"],"prefix":"10.1177","volume":"10","author":[{"given":"Zhiyong","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmine S.","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalpana","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swee Hoon","family":"Koh","sequence":"additional","affiliation":[{"name":"Neuromuscular 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