Congenital myasthenic syndrome in two Egyptian siblings due to a novel low-expressor AChR epsilon subunit mutation

被引：0
作者：
de la Banda, M. Gomez Garcia [1 ]
Fahmi, N. [2 ]
Sternberg, D. [3 ]
Blondy, P. [3 ]
Quijano-Roy, S. [1 ]
Malfatti, E. [1 ]
机构：
[1] UVSQ Paris Saclay, AP HP, Garches, France
[2] Ain Shams Univ, Cairo, Egypt
[3] Sorbonne Univ, AP HP, Paris, France
来源：
NEUROMUSCULAR DISORDERS | 2020年 / 30卷
关键词：
D O I：
10.1016/j.nmd.2020.08.042
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
P.34
引用
收藏
页码：S57 / S58
页数：2
相关论文
共 50 条
  • [41] Novel ε subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome
    Outteryck, O.
    Richard, P.
    Lacour, A.
    Fournier, E.
    Zephir, H.
    Gaudon, K.
    Eymard, B.
    Hantai, D.
    Vermersch, P.
    Stojkovic, T.
    [J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2009, 80 (04) : 450 - 451
  • [42] Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE
    Marquardt, Robert J.
    Li, Yuebing
    [J]. MUSCLE & NERVE, 2019, 60 (01) : E3 - E4
  • [43] Combined presynaptic and postsynaptic failure in a congenital myasthenic syndrome (CMS) associated with cerebellar ataxia, seizures, mental retardation, and a mutation in the acetylcholine receptor (AChR)ε subunit
    Maselli, RA
    Kong, DZ
    Bowe, CA
    McDonald, C
    Gomez, CM
    Wollamann, RL
    [J]. NEUROLOGY, 2000, 54 (07) : A182 - A182
  • [44] Low-affinity fast-channel congenital myasthenic syndrome (CMS) caused by new missense mutations in the acetylcholine receptor (AChR) α-subunit
    Milone, M
    Ohno, K
    Brengman, JM
    Batocchi, AP
    Tonali, PA
    Engel, AG
    [J]. NEUROLOGY, 1998, 50 (04) : A432 - A433
  • [45] A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
    Jia-Ze Tan
    Yuan Man
    Fei Xiao
    [J]. 中华医学杂志英文版, 2016, 129 (21) : 2596 - 2602
  • [46] A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
    Tan, Jia-Ze
    Man, Yuan
    Xiao, Fei
    [J]. CHINESE MEDICAL JOURNAL, 2016, 129 (21) : 2596 - 2602
  • [47] Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature
    Cheli, Marta
    Brugnoni, Raffaella
    Gibertini, Sara
    Mantegazza, Renato
    Maggi, Lorenzo
    [J]. JOURNAL OF NEUROMUSCULAR DISEASES, 2023, 10 (03) : 449 - 458
  • [48] Congenital myasthenic syndrome with Desmin aggregates: A novel association in recessive desminopathies due to a recurrent intronic DES mutation
    Polavarapu, K.
    Thompson, R.
    Matalonga, L.
    Nandeesh, B.
    Vengalil, S.
    Preethish-Kumar, V.
    Laurie, S.
    Nalini, A.
    Lochmueller, H.
    [J]. NEUROMUSCULAR DISORDERS, 2022, 32 : S79 - S79
  • [49] Novel heteroallelic splice junction/truncating mutations in the acetylcholine receptor (AChR) ε-subunit gene associate with a congenital myasthenic syndrome (CMS) with predominant ocular involvement
    Mazia, CG
    Maselli, RA
    [J]. NEUROLOGY, 2004, 62 (07) : A354 - A354
  • [50] Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
    Unal, Ozlem
    Ozgul, R. Koksal
    Yucel, Didem
    Yalnizoglu, Dilek
    Tokatli, Aysegul
    Sivri, H. Serap
    Hismi, Burcu
    Coskun, Turgay
    Dursun, Ali
    [J]. TURKISH JOURNAL OF PEDIATRICS, 2015, 57 (04) : 388 - 393
12345