title: A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.
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.
authors: State Key Laboratory of Biomembrane and Membrane Biotechnology, College of Life Sciences, Peking University Beijing, 100871, China.
authors: Hailiang
authors: H
authors: Yan
authors: Xiaoting
authors: X
authors: Guan
authors: Luning
authors: L
authors: Wang
authors: Jiping
authors: J
authors: Tan
authors: Guihong
authors: G
authors: Wang
authors: Yuan
authors: Y
authors: An
authors: Yan
authors: Y
authors: Zhang
keywords: Chinese; movement disorder; mutation; myoclonus dystonia syndrome; ε-sarcoglycan gene
references: J Med Genet. 1984 Jun;21(3):164-72
references: 6086927
references: Mov Disord. 2008 Jul 30;23(10):1472-5
references: 18581468
references: Parkinsonism Relat Disord. 2010 Nov;16(9):585-9
references: 20800530
references: Adv Neurol. 2004;94:113-9
references: 14509663
references: Lancet Neurol. 2011 Dec;10(12):1074-85
references: 22030388
references: Hum Mutat. 2011 Nov;32(11):1246-58
references: 21796726
references: Adv Neurol. 1998;78:325-34
references: 9750929
references: Trends Neurosci. 2012 Aug;35(8):487-96
references: 22626542
references: Hum Mutat. 2008 Feb;29(2):331-2
references: 18205193
references: Mov Disord. 2009 Mar 15;24(4):479-89
references: 19117361
references: Neurology. 2002 Oct 22;59(8):1187-96
references: 12391346
references: Brain. 2007 Oct;130(Pt 10):2736-45
references: 17898012
references: Nat Genet. 2001 Sep;29(1):66-9
references: 11528394
references: Mov Disord. 2008 Oct 15;23(13):1913-5
references: 18702114
references: Neurology. 2008 Mar 25;70(13):1010-6
references: 18362280
references: Mov Disord. 2011 Aug 15;26(10):1939-42
references: 21713999