RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

被引:55
|
作者
Shepherd, S [1 ]
Ellis, F [1 ]
Halsall, J [1 ]
Hopkins, P [1 ]
Robinson, R [1 ]
机构
[1] St James Univ Hosp, Acad Unit Anaesthesia, MH Unit, Leeds LS9 7TF, W Yorkshire, England
关键词
D O I
10.1136/jmg.2003.014274
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:7
相关论文
共 50 条
  • [41] A novel RYR1 variant in an infant with a unique fetal presentation of central core disease
    Baker, Elizabeth K.
    Al Gharaibeh, Faris N.
    Bove, Kevin
    Calvo-Garcia, Maria A.
    Shillington, Amelle
    VandenHeuvel, Katherine
    Cortezzo, DonnaMaria E.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (06) : 1646 - 1651
  • [42] 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
  • [43] Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
    Zhou, Haiyan
    Brockington, Martin
    Jungbluth, Heinz
    Monk, David
    Stanier, Philip
    Sewry, Caroline A.
    Moore, Gudrun E.
    Muntoni, Francesco
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (05) : 859 - 868
  • [44] Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia
    Urwyler, A
    Halsall, PJ
    Mueller, C
    Robinson, R
    ACTA ANAESTHESIOLOGICA SCANDINAVICA, 2003, 47 (04) : 492 - 492
  • [45] Disease-associated mutations at the N-terminal region on the RyR1 divergently affect the calcium channel activity
    Murayama, Takashi
    Kurebayashi, Nagomi
    Yamazawa, Toshiko
    Oyamada, Hideto
    Suzuku, Junji
    Kanemaru, Kazunori
    Takemori, Shigeru
    Oguchi, Katsuji
    Iino, Masamitsu
    Sakurai, Takashi
    JOURNAL OF PHARMACOLOGICAL SCIENCES, 2014, 124 : 137P - 137P
  • [46] Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene
    Clayton, Joshua S.
    Vo, Christina
    Crane, Jordan
    Scriba, Carolin K.
    Saker, Safaa
    Larmonier, Thierry
    Malfatti, Edoardo
    Romero, Norma B.
    Ravenscroft, Gianina
    Laing, Nigel G.
    Taylor, Rhonda L.
    STEM CELL RESEARCH, 2024, 77
  • [47] Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1
    Dirksen, RT
    Avila, G
    BIOPHYSICAL JOURNAL, 2004, 87 (05) : 3193 - 3204
  • [48] Effects of Amino-Terminal Disease-Associated Mutations on the CICR Activity of RyR1 Channel
    Murayama, Takashi
    Kurebayashi, Nagomi
    Yamazawa, Toshiko
    Oyamada, Hideto
    Takemori, Shigeru
    Oguchi, Katsuji
    Sakurai, Takashi
    BIOPHYSICAL JOURNAL, 2014, 106 (02) : 110A - 110A
  • [49] Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy
    Vattemi, Gaetano Nicola Alfio
    Rossi, Daniela
    Galli, Lucia
    Catallo, Maria Rosaria
    Pancheri, Elia
    Marchetto, Giulia
    Cisterna, Barbara
    Malatesta, Manuela
    Pierantozzi, Enrico
    Tonin, Paola
    Sorrentino, Vincenzo
    EUROPEAN JOURNAL OF NEUROSCIENCE, 2022, 56 (03) : 4214 - 4223
  • [50] Congenital neuromuscular disease with uniform type 1 fiber due to RYR1 mutations
    Nishino, Ichizo
    Sato, Ikuko
    Wu, Shiwen
    Ibarra M., Carlos A.
    Hayashi, Yukiko
    Oh, Shin
    Nonaka, Ikuya
    Noguchi, Satoru
    NEUROLOGY, 2007, 68 (12) : A301 - A301