Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

被引:19
作者
Maruyama, H. [1 ]
Morino, H. [1 ]
Miyamoto, R. [1 ]
Murakami, N. [2 ]
Hamano, T. [2 ]
Kawakami, H. [1 ]
机构
[1] Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Epidemiol, Hiroshima 7348553, Japan
[2] Kansai Elect Power Hosp, Dept Neurol, Osaka, Japan
关键词
CEREBELLAR-ATAXIA; DISEASE;
D O I
10.1111/cge.12140
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:296 / 297
页数:2
相关论文
共 5 条
[1]   The Autosomal Recessive Cerebellar Ataxias [J].
Anheim, Mathieu ;
Tranchant, Christine ;
Koenig, Michel .
NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (07) :636-646
[2]   ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies [J].
Chamova, Teodora ;
Florez, Laura ;
Guergueltcheva, Velina ;
Raycheva, Margarita ;
Kaneva, Radka ;
Lochmueller, Hanns ;
Kalaydjieva, Luba ;
Tournev, Ivailo .
JOURNAL OF NEUROLOGY, 2012, 259 (05) :906-911
[3]   CEREBELLAR ATAXIA WITH SYNE1 MUTATION ACCOMPANYING MOTOR NEURON DISEASE [J].
Izumi, Yuishin ;
Miyamoto, Ryosuke ;
Morino, Hiroyuki ;
Yoshizawa, Akio ;
Nishinaka, Kazuto ;
Udaka, Fukashi ;
Kameyama, Masakuni ;
Maruyama, Hirofumi ;
Kawakami, Hideshi .
NEUROLOGY, 2013, 80 (06) :600-601
[4]   Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients [J].
Maruyama, H ;
Izumi, Y ;
Morino, H ;
Oda, M ;
Toji, H ;
Nakamura, S ;
Kawakami, H .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 114 (05) :578-583
[5]   Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia [J].
Vermeer, Sascha ;
Hoischen, Alexander ;
Meijer, Rowdy P. P. ;
Gilissen, Christian ;
Neveling, Kornelia ;
Wieskamp, Nienke ;
de Brouwer, Arjan ;
Koenig, Michel ;
Anheim, Mathieu ;
Assoum, Mirna ;
Drouot, Nathalie ;
Todorovic, Slobodanka ;
Milic-Rasic, Vedrana ;
Lochmueller, Hanns ;
Stevanin, Giovanni ;
Goizet, Cyril ;
David, Albert ;
Durr, Alexandra ;
Brice, Alexis ;
Kremer, Berry ;
van de Warrenburg, Bart P. C. ;
Schijvenaars, Mascha M. V. A. P. ;
Heister, Angelien ;
Kwint, Michael ;
Arts, Peer ;
van der Wijst, Jenny ;
Veltman, Joris ;
Kamsteeg, Erik-Jan ;
Scheffer, Hans ;
Knoers, Nine .
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (06) :813-819