Severe congenital myopathy with central nuclei and novel RYR1 gene mutations

被引:0
|
作者
Chrestian, N. [1 ]
Dowling, J. [1 ]
Amburgey, K. [1 ]
Moraes, T. [1 ]
Cohn, R. [1 ]
Hawkins, C. [1 ]
Halliday, W. [1 ]
McAdam, L. [2 ]
Biggar, D. [2 ]
Vajsar, J. [1 ]
机构
[1] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[2] Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada
关键词
D O I
10.1016/j.nmd.2014.06.061
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.47
引用
收藏
页码:808 / 809
页数:2
相关论文
共 50 条
  • [41] Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations -: One disease with many faces?
    Mathews, KD
    Moore, SA
    ARCHIVES OF NEUROLOGY, 2004, 61 (01) : 27 - 29
  • [42] Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene
    Pietrini, V
    Marbini, A
    Galli, L
    Sorrentino, V
    JOURNAL OF NEUROLOGY, 2004, 251 (01) : 102 - 104
  • [43] Effects of MH and CCD Mutations in the Central Region on RyR1 Channels
    Murayama, Takashi
    Kurebayashi, Nagomi
    Yamazawa, Toshiko
    Oyamada, Hideto
    Suzuki, Junji
    Kanemaru, Kazunori
    Oguchi, Katsuji
    Iino, Masamitsu
    Sakurai, Takashi
    BIOPHYSICAL JOURNAL, 2015, 108 (02) : 270A - 271A
  • [44] High frequency of polymorphisms in the RYR1 gene in Brazilian patients with centronuclear myopathy
    Yamamoto, L. U.
    Maia, L. S.
    Ayub-Guerrieri, D.
    Onofre, P. C. G.
    Lopes, V. F.
    Zilberztajn, D.
    Martins, P. C. M.
    Senkevics, A. S.
    Santos, A. L. F.
    Sell, K.
    Zatz, M.
    Silva, H. C.
    Gurgel-Gianneti, J.
    Vainzof, M.
    NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 810 - 810
  • [45] Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene
    Vladimiro Pietrini
    Adriana Marbini
    Lucia Galli
    Vincenzo Sorrentino
    Journal of Neurology, 2004, 251 : 102 - 104
  • [46] Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    Jungbluth, H
    Davis, MR
    Müller, C
    Counsell, S
    Allsop, J
    Chattopadhyay, A
    Messina, S
    Mercuri, E
    Laing, NG
    Sewry, CA
    Bydder, G
    Muntoni, F
    NEUROMUSCULAR DISORDERS, 2004, 14 (12) : 785 - 790
  • [47] Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations
    Eckhardt, Jan
    Bachmann, Christoph
    Benucci, Sofia
    Elbaz, Moran
    Ruiz, Alexis
    Zorzato, Francesco
    Treves, Susan
    HUMAN MOLECULAR GENETICS, 2020, 29 (08) : 1330 - 1339
  • [48] Characterization of an Animal Model for Congenital Myopathies Linked to Recessive RyR1 Mutations
    Elbaz, Moran
    Ruiz, Alexis
    Eckhardt, Jan
    Treves, Susan
    Zorzato, Francesco
    BIOPHYSICAL JOURNAL, 2019, 116 (03) : 522A - 522A
  • [49] Whole genome sequencing reveals compound heterozygous RYR1 variants in a patient with severe congenital myopathy: case report and comparison with additional cases of recessive RYR1-related myopathy
    Janssen, Soren
    Erbe, Leoni
    Kneifel, Moritz
    Vorgerd, Matthias
    Doring, Kristina
    Lubieniecki, Krzysztof P.
    Lubieniecka, Joanna
    Gerding, Wanda
    Casadei, Nicolas
    Luecke, Thomas
    Huu Phuc Nguyen
    Kohler, Cornelia
    Hoffjan, Sabine
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1524 - 1524
  • [50] Central core disease due to recessive mutations in RYR1 gene:: Is it more common than described?
    Kossugue, Patricia M.
    Paim, Julia F.
    Navarro, Monica M.
    Silva, Helga C.
    Pavanello, Rita C. M.
    Gurgel-Giannetti, Juliana
    Zatz, Mayana
    Vainzof, Mariz
    MUSCLE & NERVE, 2007, 35 (05) : 670 - 674