An axonal Charcot–Marie–Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype

被引：0
|
作者：
Catarina Correia Rodrigues
Miguel Oliveira Santos
机构：
[1] Hospital de Santa Maria,Department of Neurosciences and Mental Health
[2] Centro Hospitalar Universitário Lisboa Norte,Institute of Physiology
[3] Instituto de Medicina Molecular,undefined
[4] Faculdade de Medicina da Universidade de Lisboa,undefined
来源：
Acta Neurologica Belgica | 2022年 / 122卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：841 / 842
页数：1
相关论文
共 50 条
  • [1] An axonal Charcot-Marie-Tooth disease associated with a homozygous GDAP1 gene mutation in two siblings from Bangladesh: a less severe phenotype
    Correia Rodrigues, Catarina
    Oliveira Santos, Miguel
    ACTA NEUROLOGICA BELGICA, 2022, 122 (03) : 841 - 842
  • [2] A novel mutation of GDAP1 associated with severe form of Charcot-Marie-Tooth disease
    Benslimane, N.
    Miressi, F.
    Magdelaine, C.
    Faye, P.
    Sturtz, F.
    Favreau, F.
    Lia, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 880 - 880
  • [3] A new GDAP1 mutation for autosomal recessive axonal form of Charcot Marie Tooth Disease
    Kacem, I.
    Ben Djebara, M.
    Hizem, Y.
    Ben Amou, B.
    Gargouri-Berrechid, A.
    Le Guern, E.
    Gouider, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 : 785 - 785
  • [4] A Novel Mutation of GDAP1 Associated with Charcot-Marie-Tooth Disease in An Iranian Family
    Pargoo, Esmaeel Mohammadi
    Aryani, Omid
    Tonekaboni, Seyyed Hassan
    Yaghmaei, Parichehr
    Kamalidehghan, Behnam
    Houshmand, Massoud
    IRANIAN JOURNAL OF CHILD NEUROLOGY, 2012, 6 (02) : 49 - 54
  • [5] Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
    Auranen, Mari
    Ylikallio, Emil
    Toppila, Jussi
    Somer, Mirja
    Kiuru-Enari, Sari
    Tyynismaa, Henna
    NEUROGENETICS, 2013, 14 (02) : 123 - 132
  • [6] Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
    Mari Auranen
    Emil Ylikallio
    Jussi Toppila
    Mirja Somer
    Sari Kiuru-Enari
    Henna Tyynismaa
    neurogenetics, 2013, 14 : 123 - 132
  • [7] Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot Marie Tooth type 2 phenotype
    Anghelescu, C.
    Cardas, R.
    Mantel, A.
    Aubourg, P.
    Servais, L.
    Gidaro, T.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S142 - S142
  • [8] Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1
    Fernandez-Lizarbe, Sara
    Civera-Tregon, Azahara
    Cantarero, Lara
    Herrer, Isabel
    Juarez, Paula
    Hoenicka, Janet
    Palau, Francesc
    EXPERIMENTAL NEUROLOGY, 2019, 320
  • [9] A NOVEL GDAP1 MUTATION IN AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE
    Pisciotta, C.
    Manganelli, F.
    Iodice, R.
    Dubbioso, R.
    Bellone, E.
    Geroldi, A.
    Capponi, S.
    Mandich, P.
    Santoro, L.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 : S32 - S32
  • [10] Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease
    Phuong-Thao Mai
    Dong-Truc Le
    Tan-Trung Nguyen
    Hoang-Linh Le Gia
    Trung-Hieu Nguyen Le
    Minh Le
    Duc-Minh Do
    BIOMED RESEARCH INTERNATIONAL, 2019, 2019
12345