A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

被引:4
|
作者
Hartmann, Christian Johannes [1 ]
Leube, Barbara [2 ]
Wojtecki, Lars [1 ]
Betz, Beate [2 ]
Groiss, Stefan Jun [1 ]
Bauer, Peter [3 ]
Schnitzler, Alfons [1 ]
Suedmeyer, Martin [1 ]
机构
[1] Univ Dusseldorf, Dept Neurol, Inst Clin Neurosci & Med Psychol, D-40225 Dusseldorf, Germany
[2] Univ Dusseldorf, Dept Human Genet, D-40225 Dusseldorf, Germany
[3] Univ Tubingen, Dept Human Genet, Tubingen, Germany
关键词
Dystonia; Mutation Carrier; Panic Attack; Ethanol Ingestion; Regular Sequence;
D O I
10.1007/s00415-011-5911-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1186 / 1188
页数:3
相关论文
共 50 条
  • [21] A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability
    Manuel Delgado-Alvarado
    Antoni Matilla-Dueñas
    Antonio Altadill-Bermejo
    Sonia Setién
    Mercedes Misiego-Peral
    José Ramón Sánchez-de la Torre
    Marc Corral-Juan
    Javier Riancho
    Neurological Sciences, 2020, 41 : 3779 - 3781
  • [22] Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia
    Chbel, Faiza
    Charroute, Hicham
    Boulouiz, Redouane
    Hamdaoui, Hasna
    Mossafa, Houssein
    Benrahma, Houda
    Ouldim, Karim
    CLINICAL CASE REPORTS, 2022, 10 (03):
  • [23] Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome
    Huang, Chia-Ling
    Lan, Min-Yu
    Chang, Yung-Yee
    Hsu, Chia-Yu
    Lai, Szu-Chia
    Chen, Rou-Shayn
    Chang, Hsiu-Chen
    Lu, Chin-Song
    Wu-Chou, Yah-Huei
    PARKINSONISM & RELATED DISORDERS, 2010, 16 (09) : 585 - 589
  • [24] The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    Monika Grabowski
    Alexander Zimprich
    Bettina Lorenz-Depiereux
    Vera Kalscheuer
    Friedrich Asmus
    Thomas Gasser
    Thomas Meitinger
    Tim M Strom
    European Journal of Human Genetics, 2003, 11 : 138 - 144
  • [25] Mutations in the gene for epsilon-sarcoglycan (SGCE) cause myoclonus-dystonia syndrome.
    Grabowski, M
    Zimprich, A
    Asmus, F
    Bauer, M
    Naumann, M
    Berg, D
    Bertram, M
    Winkelmann, J
    Müller-Myhsok, B
    Meitinger, T
    Strom, TM
    Gasser, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 186 - 186
  • [26] The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
    Grabowski, M
    Zimprich, A
    Lorenz-Depiereux, B
    Kalscheuer, V
    Asmus, F
    Gasser, T
    Meitinger, T
    Strom, TM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (02) : 138 - 144
  • [27] Epsilon-sarcoglycan (SGCE), the gene mutated in myoclonus-dystonia syndrome, is imprinted.
    Grabowski, M
    Zimprich, A
    Lorenz-Depiereux, B
    Asmus, F
    Bauer, M
    Kalscheuer, VM
    Gasser, T
    Meitinger, T
    Strom, TM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 233 - 234
  • [28] SGCE Myoclonus-Dystonia An Inherited Movement Disorder
    Yoganathan, Sangeetha
    Kumar, Madhan
    Sharma, Suvasini
    Patel, Smruti
    Danda, Sumita
    Thomas, Maya
    NEUROLOGY, 2022, 98 (07) : 289 - 289
  • [29] Myoclonus-dystonia: Significance of large SGCE deletions
    Grunewald, A.
    Djarmati, A.
    Lohmann-Hedrich, K.
    Farrell, K.
    Zeller, J. A.
    Allert, N.
    Papengut, F.
    Petersen, B.
    Fung, V.
    Sue, C. M.
    O'Sullivan, D.
    Mahant, N.
    Kupsch, A.
    Chuang, R. S.
    Wiegers, K.
    Pawlack, H.
    Hagenah, J.
    Ozelius, L. J.
    Stephani, U.
    Schuit, R.
    Lang, A. E.
    Volkmann, J.
    Munchau, A.
    Klein, C.
    HUMAN MUTATION, 2008, 29 (02) : 331 - 332
  • [30] A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report
    Meliza Angelica J. de Leon
    Raymond L. Rosales
    Christine Klein
    Ana Westenberger
    BMC Neurology, 22