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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2013;6(4):289-293
Original Article
A point mutation in ε-sarcoglycan induces inherited myoclonus dysto-nia syndrome
in a Chinese family
Hailiang Yan, Xiaoting Guan, Luning Wang, Jiping Tan, Guihong Wang, Yuan An, Yan Zhang
State Key Laboratory of Biomembrane and Membrane Biotechnology, College of Life Sciences, Peking University, Beijing, 100871,
China; Department of Neurology, Beijing Tiantan Hosipital, Capital Medical University, Beijing, 100050, China; Department of Geriatric
Neurology, Chinese PLA General Hospital, Beijing 100853, China
Received January 21, 2013; Accepted March 12, 2013; Epub April 12, 2013; Published April 30, 2013
Abstract: 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. (IJCEM1301009).
Keywords: ε-sarcoglycan gene, myoclonus dystonia syndrome, mutation, Chinese, movement disorder
Address correspondence to: Dr. Xiaoting Guan, Department of Neurology, Beijing Tiantan Hosipital, Capital Medical University,
Beijing, 100050, China. Phone: 86-10-67096641; Fax: 86-10-67098046; E-mail: gxt-137@medmail.com.cn; Dr. Yan Zhang, College of
Life Sciences, Room 219, Peking University, Beijing, 100871, China. Tel: 86-10-62754880; Fax: 86-10-62751526; E-mail:
yanzhang@pku.edu.cn; Dr. Luning Wang, Department of Geriatric Neurology, Chinese PLA General Hospital, Beijing 100853, China.
Phone: 86-10-66876268; E-mail: ln_wang301@sohu.com
Original Article
A point mutation in ε-sarcoglycan induces inherited myoclonus dysto-nia syndrome
in a Chinese family
Hailiang Yan, Xiaoting Guan, Luning Wang, Jiping Tan, Guihong Wang, Yuan An, Yan Zhang
State Key Laboratory of Biomembrane and Membrane Biotechnology, College of Life Sciences, Peking University, Beijing, 100871,
China; Department of Neurology, Beijing Tiantan Hosipital, Capital Medical University, Beijing, 100050, China; Department of Geriatric
Neurology, Chinese PLA General Hospital, Beijing 100853, China
Received January 21, 2013; Accepted March 12, 2013; Epub April 12, 2013; Published April 30, 2013
Abstract: 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. (IJCEM1301009).
Keywords: ε-sarcoglycan gene, myoclonus dystonia syndrome, mutation, Chinese, movement disorder
Address correspondence to: Dr. Xiaoting Guan, Department of Neurology, Beijing Tiantan Hosipital, Capital Medical University,
Beijing, 100050, China. Phone: 86-10-67096641; Fax: 86-10-67098046; E-mail: gxt-137@medmail.com.cn; Dr. Yan Zhang, College of
Life Sciences, Room 219, Peking University, Beijing, 100871, China. Tel: 86-10-62754880; Fax: 86-10-62751526; E-mail:
yanzhang@pku.edu.cn; Dr. Luning Wang, Department of Geriatric Neurology, Chinese PLA General Hospital, Beijing 100853, China.
Phone: 86-10-66876268; E-mail: ln_wang301@sohu.com
