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

被引:56
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 49 条
[11]  
ELLIS FR, 1985, BRIT J ANAESTH, V57, P1038
[12]   MISSENSE MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE CAUSE CENTRAL CORE DISEASE IN HYPERTROPHIC CARDIOMYOPATHY [J].
FANANAPAZIR, L ;
DALAKAS, MC ;
CYRAN, F ;
COHN, G ;
EPSTEIN, ND .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (09) :3993-3997
[13]   A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene [J].
Ferreiro, A ;
Monnier, N ;
Romero, NB ;
Leroy, JP ;
Bönnemann, C ;
Haenggeli, CA ;
Straub, V ;
Voss, WD ;
Nivoche, Y ;
Jungbluth, H ;
Lemainque, A ;
Voit, T ;
Lunardi, J ;
Fardeau, M ;
Guicheney, P .
ANNALS OF NEUROLOGY, 2002, 51 (06) :750-759
[14]   Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies [J].
Ferreiro, A ;
Quijano-Roy, S ;
Pichereau, C ;
Moghadaszadeh, B ;
Goemans, N ;
Bönnemann, C ;
Jungbluth, H ;
Straub, V ;
Villanova, M ;
Leroy, JP ;
Romero, NB ;
Martin, JJ ;
Muntoni, F ;
Voit, T ;
Estournet, B ;
Richard, P ;
Fardeau, M ;
Guicheney, P .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :739-749
[15]   Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca2+ release channel (ryanodine receptor) activity and conductance [J].
Gao, L ;
Balshaw, D ;
Xu, L ;
Tripathy, A ;
Xin, CL ;
Meissner, G .
BIOPHYSICAL JOURNAL, 2000, 79 (02) :828-840
[16]   A SUBSTITUTION OF CYSTEINE FOR ARGININE-614 IN THE RYANODINE RECEPTOR IS POTENTIALLY CAUSATIVE OF HUMAN-MALIGNANT HYPERTHERMIA [J].
GILLARD, EF ;
OTSU, K ;
FUJII, J ;
KHANNA, VK ;
DELEON, S ;
DERDEMEZI, J ;
BRITT, BA ;
DUFF, CL ;
WORTON, RG ;
MACLENNAN, DH .
GENOMICS, 1991, 11 (03) :751-755
[17]   Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells [J].
Girard, T ;
Treves, S ;
Censier, K ;
Mueller, CR ;
Zorzato, F ;
Urwyler, A .
BRITISH JOURNAL OF ANAESTHESIA, 2002, 89 (04) :571-579
[18]   Malignant hyperthermia: advances in clinical management and diagnosis [J].
Hopkins, PM .
BRITISH JOURNAL OF ANAESTHESIA, 2000, 85 (01) :118-128
[19]   ANESTHETIC COMPLICATIONS IN MUSCLE DISORDERS [J].
IAIZZO, PA ;
LEHMANNHORN, F .
ANESTHESIOLOGY, 1995, 82 (05) :1093-1096
[20]   Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene [J].
Ilkovski, B ;
Cooper, ST ;
Nowak, K ;
Ryan, MM ;
Yang, N ;
Schnell, C ;
Durling, HJ ;
Roddick, LG ;
Wilkinson, I ;
Kornberg, AJ ;
Collins, KJ ;
Wallace, G ;
Gunning, P ;
Hardeman, EC ;
Laing, NG ;
North, KN .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1333-1343