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
  • [1] Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation
    Shen, XM
    Ohno, K
    Fukudome, T
    Tsujino, A
    Brengman, JM
    De Vivo, DC
    Packer, RJ
    Engel, AG
    NEUROLOGY, 2002, 59 (12) : 1881 - 1888
  • [2] Congenital myasthenic syndrome patients due to AChR epsilon subunit mutations
    Bonifati, D. M.
    Webster, R.
    Maxwell, S.
    Brydson, M.
    Polizzi, A.
    Vincent, A.
    Beeson, D.
    EUROPEAN JOURNAL OF NEUROLOGY, 2004, 11 : 25 - 26
  • [3] Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
    de la Banda, Marta Gomez-garcia
    Simental-Aldaba, Emmanuel
    Fahmy, Nagia
    Sternberg, Damien
    Blondy, Patricia
    Quijano-Roy, Susana
    Malfatti, Edoardo
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [4] Congenital myasthenic syndrome in cattle due to homozygosity for a truncating mutation in the acetylcholine receptor (AChR) epsilon-subunit gene
    Sieb, JP
    Kraner, S
    Thompson, PN
    Steinlein, OK
    MYASTHENIA GRAVIS AND RELATED DISORDERS: BIOMCHEMICAL BASIS FOR DISEASE OF THE NEUROMUSCULAR JUNCTION, 2003, 998 : 125 - 127
  • [5] A CONGENITAL MYASTHENIC SYNDROME (CMS) WITH A NONSENSE MUTATION IN THE EPSILON(E)-SUBUNIT OF THE ACETYLCHOLINE-RECEPTOR (ACHR)
    OHNO, K
    ENGEL, AG
    BRENGMAN, JM
    HUTCHINSON, DO
    GRIGGS, RC
    NEUROLOGY, 1994, 44 (04) : A188 - A188
  • [6] Congenital myasthenic syndrome in an Arab-Israeli family caused by new mutation of AChR epsilon subunit
    Mazarib, A
    Engel, AG
    Korczyn, AD
    Shahien, R
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S156 - S156
  • [7] Congenital myasthenic syndrome in two siblings due to a homozygous splice mutation of the ε-acetylcholine receptor subunit gene
    Barisic, N
    Lochmuller, H
    Song, IH
    Schmidt, C
    NEUROLOGY, 2001, 56 (08) : A43 - A44
  • [8] Congenital Myasthenic Syndrome caused by the homozygous mutation 1267delG of the ACHR Epsilon Subunit Gene (CHRNE)
    Calvet, J. Pascual
    Serradell, A. Pou
    Tellez, M. J.
    Bonaventura, I.
    NEUROMUSCULAR DISORDERS, 2006, 16 : S179 - S179
  • [9] Congenital myasthenic syndrome due to a null mutation and an inframe duplication of the acetylcholine receptor (AChR) ε subunit gene.
    Milone, M
    Ohno, K
    Fukudome, T
    Shen, XM
    Brengman, JM
    Griggs, RC
    Engel, AG
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A340 - A340
  • [10] Splice-site mutations in the achr epsilon subunit gene associated with congenital myasthenic syndrome
    Croxen, R
    Vincent, A
    Newsom-Davis, J
    Beeson, D
    EUROPEAN JOURNAL OF NEUROSCIENCE, 2000, 12 : 36 - 36
12345