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The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Lv, Xiaoqing; Lin, Feng; Wu, Wenjing; Wang, Hui; Luo, Yuebei; Wang, Zhiqiang; Yan, Chuanzhu; Lv, He; Luo, Sushan; Lin, Pengfei.
Affiliation
  • Lv X; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
  • Lin F; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, 20 Chazhong Road, Fuzhou, Fujian 350005, China.
  • Wu W; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
  • Wang H; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Luo Y; Department of Neurology, Xiangya Hospital Central South University, Changsha 410008, China.
  • Wang Z; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, 20 Chazhong Road, Fuzhou, Fujian 350005, China.
  • Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Lv H; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Luo S; Department of Neurology and Huashan Rare Disease Center, Huashan Hospital, Shanghai Medical College, Fudan University, National Center for Neurological Disorders, Shanghai 200040, China.
  • Lin P; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
Hum Mol Genet ; 32(15): 2502-2510, 2023 07 20.
Article in En | MEDLINE | ID: mdl-37216648
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Full text: 1 Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / East Asian People Limits: Adolescent / Adult / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: China
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Full text: 1 Database: MEDLINE Main subject: Muscular Dystrophies, Limb-Girdle / East Asian People Limits: Adolescent / Adult / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: China