A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family

International Journal of Clinical and Experimental Medicine

Luning Wang¹  Xiaoting Guan¹  Hailiang Yan¹  Yan Zhang¹  Jiping Tan¹  Guihong Wang¹  Yuan An¹ 

关键词: ε-sarcoglycan gene;    myoclonus dystonia syndrome;    mutation;    Chinese;    movement disorder;   

DOI  :  

学科分类：医学（综合）

来源: e-Century Publishing Corporation

【 摘 要 】

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.

【 授权许可】

Unknown