Skeletal muscle channelopathies

Journal of Neurology

Volumn 249, Issue 11, 2002, Pages 1493-1502

  Jurkat Rott, Karin ^a   Lerche, Holger ^a   Lehmann Horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

Calcium chloride; Hereditary diseases; Ionchannels; Potassium; Sodium

Indexed keywords

ANESTHETIC AGENT; ANTIARRHYTHMIC AGENT; CALCIUM CHANNEL; CHLORIDE CHANNEL; MEXILETINE; SODIUM CHANNEL; VOLTAGE GATED POTASSIUM CHANNEL;

CHANNELOPATHY; CLINICAL FEATURE; GENE MUTATION; HUMAN; MALIGNANT HYPERTHERMIA; MUSCLE DISEASE; MUSCLE EXCITATION; MYOTONIA; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

HUMANS; ION CHANNELS; MALIGNANT HYPERTHERMIA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOTONIA; PARALYSIS, HYPERKALEMIC PERIODIC; SARCOLEMMA;

EID: 0036459928     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-002-0871-5     Document Type: Review

References (77)

1. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA (2001) MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 104: 217-231
2. Adrian RH, Bryant SH (1974) On the repetitive discharge in myotonic muscle fibres. J Physiol (London) 240: 505-515
3. Avila G, O'Brien JJ, Dirksen RT (2001) Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Proc Natl Acad Sci USA 98: 4215-4220
4. Becker PE (1977) Myotonia Congenita and Syndromes Associated with Myotonia. Thieme, Stuttgart
5. Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptacek LJ (1999) Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol (London) 518: 337-344
6. Birnberger KL, Klepzig M (1979) Influence of extracellular potassium and intracellular pH on myotonia. J Neurol 222: 23-35
7. Bradley WG, Taylor R, Rice DR (1990) Hausmanowa-Petruzewicz I, Adelman LS, Jenkison M, Jedrzejowska H, Drac H, Pendlebury WW. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 47: 1013-1017
8. Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F (1999) Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in-vitro contracture test. Hum Mol Gen 8: 2055-2062
9. Bulman DE, Scoggan KA, Van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC (1999) A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 53: 1932-1936
10. Cannon SC, Strittmatter SM (1993) Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 10: 317-326
11. Censier K, Urwyler A, Zorzato F, Treves S (1998) Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J Clin Invest 101: 1233-1242
12. Chahine M, George AL Jr, Zhou M, Ji S, Sun W, Barchi RL, Horn R (1994) Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 12: 281-294
13. Cummins TR, Sigworth FJ (1996) Impaired slow inactivation of mutant sodium channels. Biophys J 71: 227-236
14. Cummins TR, Zhou J, Sigworth FJ, Ukomadu C, Stephan M, Ptacek LJ, Agnew WS (1993) Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 10: 667-678
15. Denborough MA, Lovell RRH (1960) Anesthetic deaths in a family. Lancet ii: 45
16. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R (2002) X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415: 287-294
17. Eulenburg A (1886) Über eine familiäre durch 6 generationen verfolgbare form kongenitaler paramyotonie. Neurol Zentralbl 5: 265-272
18. Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, Romano D, Gusella JF, Brown RH Jr (1990) Hyperkalemic periodic paralysis and the adult muscle sodium channel a-subunit gene. Science 250: 1000-1002
19. Fontaine B,Vale Santos JM, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardeau M, Lehmann-Horn F (1994) Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nature Genet 6: 267-272
20. Gamstorp I (1956) Adynamia episodica hereditaria. Acta Paediat Scand 45 (suppl 108): 1-126
21. George AL Jr, Crackover MA, Abdalla JA, Hudson JA, Ebers GC (1993) Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet 3: 305-310
22. George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM (1994) Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 3: 2071-2072
23. Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC (1990) Assignment of the gene for central core disease to chromosome 19. Hum Genet 86: 187-190
24. Hagberg JM, Carroll JE, Brooke MH (1980) Endurance exercise training in a patient with central core disease. Neurology 30: 1242-1244
25. Heine R, Pika U, Lehmann-Horn F (1993) A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet 2: 1349-1353
26. Heine R, George AL, Pika U, Deymeer F, Rüdel R, Lehmann-Horn F (1994) Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet 3: 1123-1128
27. Iaizzo PA, Klein W, Lehmann-Horn F (1988) Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflügers Archiv - Eur J Physiol 411: 648-653
28. Islander G, Henriksson KG, Ranklev-Twetman E (1995) Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. Neuromusc Disord 5: 125-127
29. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers P, Lapie P, Vale-Santos JE, Weissenbach J, Fontaine B (1994) A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Gen 3: 1415-1419
30. Jurkat-Rott K, Uetz U, Pika-Hartlaub U, Powell J, Fontaine B, Melzer W, Lehmann-Horn F (1998) Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H). FEBS Letters 423: 198-204
31. Jurkat-Rott K, McCarthy T, Lehmann-Horn F (2000) Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 23: 4-17
32. Jurkat-Rott K, Mitrovic N, Hang C, Kouzmenkin A, Iaizzo P, Herzog J, Lerche H, Nicole N, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F (2000) Voltage sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci USA 97: 9549-9554
33. Kausch K, Lehmann-Horn F, Hartung EJ, Janka M, Wieringa B, Grimm T, Müller CR (1991) Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 10: 765-769
34. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257: 797-800
35. + channel mutations causing hypokalemic periodic paralysis type II. Brain 125: 835-843
36. Lehmann-Horn F, Küther G, Ricker K, Grafe P, Ballanyi K, Rüdel R (1987a) Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 10: 363-374
37. Lehmann-Horn F, Rüdel R, Ricker K (1987b) Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 10: 633-641
38. + channels in hyperkalemic periodic paralysis. Pflügers Arch 418: 297-299
39. Lehmann-Horn F, Mailänder V, Heine R, George AL (1995) Myotonia levior is a chloride channel disorder. Hum Mol Gen 4: 1397-1402
40. Lehmann-Horn F, Jurkat-Rott K (1999) Voltage-gated ion channels and hereditary disease. Physiol Rev 79: 1317-1371
41. Lerche H, Heine R, Pika U, George AL, Mitrovic N, Browatzki M, Weiss T, Bastide-Rivet M, Franke C, LoMonaco M, Ricker K, Lehmann-Horn F (1993) Human sodium channel myotonia: Slowed channel inactivation due to substitutions for a glycine within the III/IV linker. J Physiol (London) 470: 13-22
42. Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996) Pathophysiology of paramyotonia congenita: The R1448P sodium channel mutation in adult human skeletal muscle. Ann Neurol 39: 599-608
43. Links TP, Zwarts MJ, Wilmink JT, Molenaar WM, Oosterhuis HJGH (1990) Permanent muscle weakness in familial hypokalaemic periodic paralysis. Brain 113: 1873-1889
44. Lipicky RJ (1979) Myotonic syndromes other than myotonic dystrophy. In: Handbook of Clinical Neurology vol. 40. Vinken, PJ & Bruyn GW, Editors. Elsevier, Amsterdam, pp 533-571
45. 2+-release channel function and severe central core disease. Proc Natl Acad Sci USA 96: 4164-4169
46. 2+-release channel function. Biochem J 337: 345-361
47. McClatchey AI, van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, Gusella JF (1992) Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68: 769-774
48. Mindell JA, Maduke M, Miller C, Grigorieff N (2001) Projection structure of a ClC-type chloride channel at 6.5 A resolution. Nature 409: 219-223
49. Mitrovic N, George AL Jr, Lerche H, Wagner S, Fahlke Ch, Lehmann-Horn F (1995) Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol (London) 487: 107-114
50. Monnier N, Procaccio V, Stieglitz P, Lunardi J (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the a1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 60: 1316-1325
51. 2+ channel expressed in Xenopus laevis oocytes. J Physiol (London) 520: 321-336
52. Palade PT, Barchi RL (1977) On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids. J Gen Physiol 69: 879-896
53. Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF (1991) Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67: 1021-1027
54. Ptacek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF (1992) Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8: 891-897
55. Ptacek LJ, Tawil R, Griggs RC, Engel A, Layzer RB, Kwiecinsky H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF (1994a) Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77: 863-868
56. Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, Leppert MF (1994b) Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 44: 1500-1503
57. Pusch M, Steinmeyer K, Koch MC, Jentsch TJ (1995) Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 15: 1455-1463
58. Ricker K, Böhlen R, Rohkamm R (1983) Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis. Neurology 33: 1615-1618
59. Ricker K, Lehmann-Horn F, Moxley RT III (1990) Myotonia fluctuans. Arch Neurol 47: 268-272
60. Ricker R, Moxley RT, Heine R, Lehmann-Horn F (1994) Myotonia fluctuans, a third type of muscle sodium channel disease. Arch Neurol 51: 1095-1102
61. Rojas CV, Wang J, Schwartz L, Hoffman EP, Powell BR, Brown RH Jr (1991) A Met-to-Val mutation in the skeletal muscle sodium channel a-subunit in hyperkalemic periodic paralysis. Nature 354: 387-389
62. Rojas CV, Neely A, Velasco-Loyden G, Palma V, Kukuljan M (1999) Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na + channel. Am J Physiol 276: C259-266
63. Rüdel R, Lehmann-Horn F, Ricker K, Küther G (1984) Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters. Muscle Nerve 7: 110-120
64. Rüdel R, Ricker K, Lehmann-Horn F (1988) Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve 11: 202-211
65. + current. Neurology 53: 1556-1563
66. Saviane C, Conti F, Pusch M (1999) The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J Gen Physiol 113: 457-468
67. Shuaib A, Paasuke RT, Brownell KW (1987) Central core disease. Clinical features in 13 patients. Medicine 66: 389-396
68. Shy GM, Magee KR (1956) A new congenital non-progressive myopathy. Brain 79: 610-621
69. Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B (2001) Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 124: 1091-1099
70. Struyk AF, Scoggan KA, Bulman DE, Cannon SC (2000) The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. J Neurosci 20: 8610-8617
71. Thomsen J (1876) Tonische krämpfe in willkürlich beweglichen muskeln in folge von ererbter psychischer disposition. Arch Psychiatr Nervenkrankh 6: 702-718
72. Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S (2001) Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis. Hum Mol Genet 10: 2879-2887
73. 2+ channel: A novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann Neurol 48: 304-312
74. Vita GM, Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H, Fletcher JE, Levitt RC (1995) Masseter muscle rigidity associated with glycine 1306-to-alanine mutation in adult muscle sodium channel a-subunit gene. Anesthesioly 82: 1097-1103
75. Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F (1997) A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 49: 1018-1025
76. Wagner S, Deymeer F, Kürz LL, Benz S, Schleithoff L, Lehmann-Horn F, Serdaroglu P, Özdemir C, Rüdel R (1998) The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology. Muscle Nerve 21: 1122-1128
77. Yang N, Ji S, Zhou M, Ptacek LJ, Barchi RL, Horn R, George AL Jr (1994) Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 91: 12785-12789