Myoclonus dystonia: a novel epsilon-sarcoglycan gene mutation with variable clinical presentation in large Turkish pedigree

被引：0
|
作者：
Gultekin, M. [1 ]
Ganos, C. [2 ]
Mencacci, N. E. [3 ]
Mirza, M. [1 ]
机构：
[1] Erciyes Univ, Dept Neurol, Sch Med, Kayseri, Turkey
[2] UCL, UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England
[3] UCL, Inst Neurol, Dept Mol Neurosci, London, England
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2016年 / 23卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P22084
引用
收藏
页码：525 / 525
页数：1
相关论文
共 50 条
  • [41] Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene
    Sobstyl, Michal
    Stapinska-Syniec, Angelika
    Zaremba, Jacek
    Jurek, Marta
    Kupryjaniuk, Anna
    Rylski, Marcin
    NEUROMODULATION, 2021, : 918 - 924
  • [42] HEREDITARY MYOCLONUS-DYSTONIA (DYT11) DUE TO EPSILON SARCOGLYCAN MUTATION: THE WALTON CENTRE EXPERIENCE
    Wong, S. H.
    Steiger, M. J.
    Larner, A. J.
    Fletcher, N. A.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (11):
  • [43] Myoclonus-Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite
    Ganguly, Jacky
    Bernaola, Mellany Tuesta
    Goobie, Sharan
    Prasad, Asuri
    Jog, Mandar
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 (02): : 264 - 267
  • [44] HEREDITARY MYOCLONUS-DYSTONIA CAUSED BY A NEW MUTATION OF THE EPSILON-SARCOGLICAN GENE
    Matias, G.
    Bugalho, P.
    Dias, A. I.
    Vale, J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 : 505 - 505
  • [45] Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ε-sarcoglycan gene
    Misbahuddin, Anjum
    Placzek, Mark
    Lennox, Graham
    Taanman, Jan-Willem
    Warner, Thomas T.
    MOVEMENT DISORDERS, 2007, 22 (08) : 1173 - 1175
  • [46] Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcogly-can gene truncating mutation.
    Marechal, L
    Raux, G
    Dumanchin, C
    Deslandre, E
    Girard, C
    Campion, D
    Parain, D
    Frebourg, T
    Hannequin, D
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 287 - 287
  • [47] Autosomal dominant myoclonus-dystonia syndrome: Different clinical manifestations in a large Czech pedigree
    Nestrasil, I.
    Kanovsky, P.
    EUROPEAN JOURNAL OF NEUROLOGY, 2006, 13 : 211 - 211
  • [48] Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene
    Diniz, Gulden
    Yildirim, Hulya Tosun
    Akinci, Gulcin
    Hazan, Filiz
    Ozturk, Aysel
    Yararbas, Kanay
    Tukun, Ajlan
    PEDIATRIC NEUROLOGY, 2014, 50 (06) : 640 - 647
  • [49] A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype
    Tedroff, Kristina
    Rolfs, Arndt
    Norling, Andreas
    ACTA PAEDIATRICA, 2012, 101 (02) : E90 - E92
  • [50] A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome
    Christian Johannes Hartmann
    Barbara Leube
    Lars Wojtecki
    Beate Betz
    Stefan Jun Groiss
    Peter Bauer
    Alfons Schnitzler
    Martin Südmeyer
    Journal of Neurology, 2011, 258 : 1186 - 1188
12345