Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
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:
主题词
儿童(Child);人类(Humans);肌营养不良蛋白聚糖类(Dystroglycans);Walker-Warburg综合征(Walker-Warburg Syndrome);回顾性研究(Retrospective Studies);肌营养不良(Muscular Dystrophies);基因型(Genotype);表型(Phenotype);突变(Mutation);韩国(Republic of Korea);戊糖基转移酶类(Pentosyltransferases)
DOI
10.1016/j.nmd.2023.03.009
PMID
37087885
发布时间
2023-06-04
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Neuromuscular disorders
425-431页
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