{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T10:07:45Z","timestamp":1783073265961,"version":"3.54.6"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T00:00:00Z","timestamp":1684713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Qingdao Science and Technology Benefit People Demonstration Guide Special Project","award":["22-8-7-smjk-1-nsh"],"award-info":[{"award-number":["22-8-7-smjk-1-nsh"]}]},{"DOI":"10.13039\/501100007129","name":"Shandong Provincial Natural Science Foundation","doi-asserted-by":"publisher","award":["ZR2022MH190"],"award-info":[{"award-number":["ZR2022MH190"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271436"],"award-info":[{"award-number":["82271436"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Limb-girdle muscular dystrophy R7 (LGMDR7) is an autosomal recessive hereditary muscular dystrophy caused by mutations in titin-cap (TCAP). Here, we summarized the clinical characteristics and TCAP mutations in a Chinese cohort of 30 patients with LGMDR7. The onset age of Chinese patients was 19.89\u2009\u00b1\u20096.70\u00a0years old, which is later than European and South Asian patients (P\u2009&amp;lt;\u20090.05). Clinically speaking, 20.0% of patients presented with predominant distal weakness, and 73.3% of patients presented with predominant pelvic girdle weakness. Radiological study revealed semitendinosus and magnus adductor were severely involved in Chinese LGMDR7 patients. Rectus femoris, vastus lateralis, vastus intermedius, soleus and tibialis anterior were moderately to severely involved. The most prevalent mutation in this cohort is c.26_33dupAGGTGTCG, while c.165dupG and c.110\u2009+\u20095G\u2009&amp;gt;\u2009A are unique in Chinese population as two of the common mutations. Besides, variant c.26_33dupAGGGTGTCG might be a founder mutation in Asian patients. Internal nuclei, lobulated fibers, and scattered rimmed vacuoles were typical morphological changes in Chinese LGMDR7 patients. This is the largest LGMDR7 cohort in the Chinese population and in the world. This article also expands the clinical, pathological, mutational and radiological spectrum of patients with LGMDR7 in China and in the world.<\/jats:p>","DOI":"10.1093\/hmg\/ddad090","type":"journal-article","created":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T20:45:06Z","timestamp":1684788306000},"page":"2502-2510","source":"Crossref","is-referenced-by-count":7,"title":["The clinical features and <i>TCAP<\/i> mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7"],"prefix":"10.1093","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7199-0297","authenticated-orcid":false,"given":"Xiaoqing","family":"Lv","sequence":"first","affiliation":[{"name":"Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, , Jinan, Shandong 250012 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Lin","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Fujian Medical University Department of Neurology and Institute of Neurology, , 20 Chazhong Road, Fuzhou, Fujian 350005 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjing","family":"Wu","sequence":"additional","affiliation":[{"name":"Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, , Jinan, Shandong 250012 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Peking University First Hospital Department of Neurology, , Beijing 100034 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuebei","family":"Luo","sequence":"additional","affiliation":[{"name":"Xiangya Hospital Central South University Department of Neurology, , Changsha 410008 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Wang","sequence":"additional","affiliation":[{"name":"The First Affiliated Hospital of Fujian Medical University Department of Neurology and Institute of Neurology, , 20 Chazhong Road, Fuzhou, Fujian 350005 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2191-5184","authenticated-orcid":false,"given":"Chuanzhu","family":"Yan","sequence":"additional","affiliation":[{"name":"Qilu Hospital of Shandong University Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, , Jinan, Shandong 250012 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He","family":"Lv","sequence":"additional","affiliation":[{"name":"Peking University First Hospital Department of Neurology, , Beijing 100034 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushan","family":"Luo","sequence":"additional","affiliation":[{"name":"Huashan Hospital, Shanghai Medical College, Fudan University, National Center for Neurological Disorders Department of Neurology and Huashan Rare Disease Center, , Shanghai 200040 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Lin","sequence":"additional","affiliation":[{"name":"Qilu Hospital of Shandong University Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, , Jinan, Shandong 250012 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,22]]},"reference":[{"key":"2023072112063562700_ref1","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1016\/S0140-6736(19)32910-1","article-title":"Muscular dystrophies","volume":"394","author":"Mercuri","year":"2019","journal-title":"Lancet"},{"key":"2023072112063562700_ref2","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1086\/513889","article-title":"The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12","volume":"61","author":"Moreira","year":"1997","journal-title":"Am. 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