Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle

Annals of Neurology

Volumn 39, Issue 5, 1996, Pages 599-608

  Lerche, H ^a   Mitrovic, N ^a   Dubowitz, V ^b   Lehmann Horn, F ^a  

^a UNIVERSITY OF ULM   (Germany)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MEMBRANE DEPOLARIZATION; MUSCLE BIOPSY; MUSCLE TWITCH; PATCH CLAMP; PRIORITY JOURNAL; REPOLARIZATION; SKELETAL MUSCLE; SODIUM CURRENT; THOMSEN DISEASE; VOLTAGE CLAMP;

ADULT; ARGININE; BIOPSY; COLD; FEMALE; HEAT; HUMANS; ION CHANNEL GATING; ISOMETRIC CONTRACTION; MICROELECTRODES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOTONIA CONGENITA; PATCH-CLAMP TECHNIQUES; POINT MUTATION; PROLINE; SODIUM CHANNELS; WALKING;

EID: 0029943856     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390509     Document Type: Article

References (26)

1. Hoffman EP, Lehmann-Horn F, Rüdel R. Over-excited or inactive: ion channels in muscle diseases. Cell 1995;80:681-686
2. + current and the effect of extracellular pH. Muscle Nerve 1987; 10:363-374
3. Lehmann-Horn F, Rüdel R, Ricker R. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 1987;10: 633-641
4. + induced failure of inactivation. Neuron 1991;6:619-626
5. + channels in hyperkalemic periodic paralysis. Pflugers Arch 1991;418:297-299
6. + channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol 1993;470:13-22
7. + channel mutations identified in families with periodic paralysis. Neuron 1993;10:317-326
8. + channel mutation causing hyperkalemic periodic paralysis. Neuron 1993;10:667-678
9. + channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 1994;12:281-294
10. + channel by the V1589M mutation. J Physiol 1994; 478:395-402
11. Mitrovic N, George AL Jr, Lerche H, et al. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol 1995; 487:107-114
12. Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Nad Acad Sci USA 1994;91:12785-12789
13. + channel. Science 1991;256:839-842
14. Wang J, Dubowitz V, Lehmann-Horn F, et al. In vivo structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. In: Dawson DC, Frizzell RA, eds. Ion channels and genetic diseases. New York: Rockefeller University Press, 1995:77-88
15. Lehmann-Horn F, Iaizzo PA. Resealed fiber segments for the study of the pathophysiology of human skeletal muscle. Muscle Nerve 1990;13:222-231
16. Lehmann-Horn F, Rüdel R, Dengler R, et al. Membrane defects in paramyotonia congenita with and without myotonia in a warm environment. Muscle Nerve 1981;4:396-406
17. Hamill OP, Marty A, Neher E, et al. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch 1981;391:85-100
18. Quasthoff S, Franke C, Hatt H, Richter-Turtur M. Two different types of potassium channels in human skeletal muscle activated by potassium channel openers. Neurosci Lett 1990; 119:191-194
19. + channel in adult human skeletal muscle. Pflugers Arch 1995;429:738-747
20. Horn R. Estimating the number of channels in patch recordings. Biophys J 1991;60:433-439
21. + conductance improves in vitro the contraction force of skeletal muscle in hypokalemic periodic paralysis. Muscle Nerve 1990;13:451-457
22. + channel openers suppress myotonic activity of human skeletal muscle in vitro. Eur J Pharmacol 1990;186:125-128
23. Patlak J, Horn R. Effects of N-bromacetamide on single channel currents in excised membrane patches. J Gen Physiol 1982; 79:333-351
24. Cannon SC, Brown RH, Corey DP. Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J 1993;65:270-288
25. Ptácek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;19:300-307
26. + channel currents in frog sartorius muscle. J Gen Physiol 1986;87: 305-326