机构：[a]State Key Laboratory of Biomembrane and Membrane Biotechnology, College of Life Sciences, Peking University, Beijing, 100871, China[b]Department of Neurology, Beijing Tiantan Hosipital, Capital Medical University, Beijing, 100050, China[c]Department of Geriatric Neurology, Chinese PLA General Hospital, Beijing 100853, China
Myoclonus dystonia syndrome is a rare movement disorder featured by myoclonic jerks and dystonia. We identified here a point mutation in ε-sarcoglycan gene exon 6 associating with inherited myoclonus dystonia syndrome in a Chinese Han family. The mutation identified induces a stop codon and terminates the transcription of ε-sarcoglycan mRNA. This in turn results in a large truncation of ε-sarcoglycan protein. The further investigation is required to understand physiological and pathological functions of ε-sarcoglycan.
语种：
外文
中科院(CAS)分区：
出版当年[2012]版：
无
最新[2025]版：
大类|4 区医学
小类|4 区医学：研究与实验
第一作者：
推荐引用方式(GB/T 7714)：
Yan H,Guan X,Wang L,et al.A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family[J].2013,6(4):
APA：
Yan, H,Guan, X,Wang, L,Tan, J,Wang, G...&Zhang, Y.(2013).A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.,6,(4)
MLA：
Yan, H,et al."A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family". 6..4(2013)
