Skeletal muscle channelopathies

被引:90
作者
Jurkat-Rott, K
Lerche, H
Lehmann-Horn, F [1 ]
机构
[1] Univ Ulm, Dept Appl Physiol, D-89069 Ulm, Germany
[2] Univ Ulm, Dept Neurol, D-89069 Ulm, Germany
关键词
ionchannels; hereditary diseases; sodium; potassium; calcium chloride;
D O I
10.1007/s00415-002-0871-5
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in voltage-gated Na+, K+, Ca2+, and Cl- channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.
引用
收藏
页码:1493 / 1502
页数:10
相关论文
共 80 条
[21]  
GEORGE AL, 1994, HUM MOL GENET, V3, P2071
[22]   MOLECULAR-BASIS OF THOMSEN DISEASE (AUTOSOMAL DOMINANT MYOTONIA-CONGENITA) [J].
GEORGE, AL ;
CRACKOWER, MA ;
ABDALLA, JA ;
HUDSON, AJ ;
EBERS, GC .
NATURE GENETICS, 1993, 3 (04) :305-310
[23]  
HAAN EA, 1990, HUM GENET, V86, P187
[24]   ENDURANCE EXERCISE TRAINING IN A PATIENT WITH CENTRAL CORE DISEASE [J].
HAGBERG, JM ;
CARROLL, JE ;
BROOKE, MH .
NEUROLOGY, 1980, 30 (11) :1242-1244
[25]   A NOVEL SCN4A MUTATION CAUSING MYOTONIA AGGRAVATED BY COLD AND POTASSIUM [J].
HEINE, R ;
PIKA, U ;
LEHMANNHORN, F .
HUMAN MOLECULAR GENETICS, 1993, 2 (09) :1349-1353
[26]   PROOF OF A NONFUNCTIONAL MUSCLE CHLORIDE CHANNEL IN RECESSIVE MYOTONIA-CONGENITA (BECKER) BY DETECTION OF A 4 BASE-PAIR DELETION [J].
HEINE, R ;
GEORGE, AL ;
PIKA, U ;
DEYMEER, F ;
RUDEL, R ;
LEHMANNHORN, F .
HUMAN MOLECULAR GENETICS, 1994, 3 (07) :1123-1128
[27]   FURA-2 DETECTED MYOPLASMIC CALCIUM AND ITS CORRELATION WITH CONTRACTURE FORCE IN SKELETAL-MUSCLE FROM NORMAL AND MALIGNANT HYPERTHERMIA SUSCEPTIBLE PIGS [J].
IAIZZO, PA ;
KLEIN, W ;
LEHMANNHORN, F .
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 1988, 411 (06) :648-653
[28]   MALIGNANT HYPERTHERMIA SUSCEPTIBILITY WITHOUT CENTRAL CORE DISEASE (CCD) IN A FAMILY WHERE CCD IS DIAGNOSED [J].
ISLANDER, G ;
HENRIKSSON, KG ;
RANKLEVTWETMAN, E .
NEUROMUSCULAR DISORDERS, 1995, 5 (02) :125-127
[29]  
Jurkat-Rott K, 2000, MUSCLE NERVE, V23, P4, DOI 10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO
[30]  
2-D