Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.

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第一作者： Young Jun,Ko

第一单位： Department of Pediatrics, Chung-Ang University Gwangmyeong Hospital, Gwangmyeong, Republic of Korea; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.

作者： Young Jun,Ko ^[1] ; Anna,Cho ^[2] ; Woo Joong,Kim ^[3] ; Soo Yeon,Kim ^[4] ; Byung Chan,Lim ^[3] ; Hunmin,Kim ^[5] ; Hee,Hwang ^[5] ; Ji Eun,Choi ^[6] ; Ki Joong,Kim ^[3] ; Jong-Hee,Chae ^[4]

作者单位： Department of Pediatrics, Chung-Ang University Gwangmyeong Hospital, Gwangmyeong, Republic of Korea; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. ^[1] Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. Electronic address: annacho77@snu.ac.kr. ^[2] Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea. ^[3] Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Republic of Korea; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea. ^[4] Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Republic of Korea. ^[5] Department of Pediatrics, Seoul National University Boramae Hospital, Seoul, Republic of Korea. ^[6]

关键词 Alpha dystroglycanopathy Genotype Muscular dystrophy Phenotype