Chapter 23 Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperthermia

Handbook of Clinical Neurophysiology

Volumn 2, Issue C, 2003, Pages 457-483

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

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33947524850     PISSN: 15674231     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1567-4231(09)70133-9     Document Type: Article

References (102)

1. Avila G., O'Brien J.J., and Dirksen R.T. Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor. Proc. Natl. Acad. Sci. USA 98 (2001) 4215-4220
2. Becker P.E. Myotonia congenita and syndromes associated with myotonia (1977), Thieme, Stuttgart.
3. Bendahhou S., Cummins T.R., Kwiecinski H., Waxman S.G., and Ptacek L.J. Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J. Physiol. 518 (1999) 337-344
4. Bendahhou S., Cummins T.R., Griggs R.C., Fu Y.H., and Ptacek L.J. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann. Neurol. 50 (2001) 417-420
5. Brandt A., Schleithoff L., Jurkat-Rott K., Klingler W., Baur C., and Lehmann-Horn F. 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 (1999) 2055-2062
6. Cannon S.C., and Strittmatter S.M. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 10 (1993) 317-326
7. Censier K., Urwyler A., Zorzato F., and Treves S. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect of over-expression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J. Clin. Invest. 101 (1998) 1233-1242
8. + channel mutations in paramyotonia congenita uncouple inactivation from activation. Neuron 12 (1994) 281-294
9. Conne B., Stutz A., and Vassalli J.D. The 3′ untranslated region of messenger RNA: A molecular 'hotspot' for pathology?. Nat. Med. 6 (2000) 637-641
10. Cummins T.R., and Sigworth F.J. Impaired slow inactivation of mutant sodium channels. Biophys. J. 71 (1996) 227-236
11. + channel mutation causing hyperkalemic periodic paralysis. Neuron 10 (1993) 667-678
12. Day J.W., Sakamato C., Parry G.J., Lehmann-Horn F., and Iaizzo P.A. Force assessment in periodic paralysis after electrical muscle stimulation. Mayo Clin. Proc. 77 (2002) 232-240
13. Deymeer F., Cakirkaya S., Serdaroglu P., Schleithoff L., Lehmann-Horn F., Rüdel R., and Özdemir C. Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle Nerve 21 (1998) 1334-1337
14. Deymeer F., Lehmann-Horn F., Serdaroglu P., Cakirkaya S., Benz S., Rüdel R., and Özdemir C. Electrical myotonia in heterozygous carriers of recessive myotonia congenita. Muscle Nerve 22 (1999) 123-125
15. Drost G., Blok J.H., Stegeman D.F., Van Dijk J.P., Van Engelen B.G., and Zwarts M.J. Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: a high-density surface EMG study. Brain 124 (2001) 352-360
16. Dutzler R., Campbell E.B., Cadene M., Chait B.T., and MacKinnon R. X-ray structure of a C1C chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 415 (2002) 287-294
17. European Malignant Hyperprexia Group. A protocol for the investigation of malignant hyperprexia (MH) susceptibility. Br. J. Anaesth. 56 (1984) 1267-1269
18. Fahlke C. Ion permeation and selectivity in C1C-type chloride channels. Am. J. Physiol. Renal Physiol. 280 (2001) F748-F757
19. Gamstorp I. Adynamia episodica hereditaria. Acta Paediat. Scand. 45 Suppl. 108 (1956) 1-126
20. Gutmann L., Riggs J.E., and Brick J.F. Exercise-induced membrane failure in paramyotonia congenita. Neurology 36 (1986) 130-132
21. Haan E.A., Freemantle C.J., McCure J.A., Friend K.L., and Mulley J.C. Assignment of the gene for central core disease to chromosome 19. Hum. Genet. 86 (1990) 187-190
22. Haass A., Ricker K., Rüdel R., Lehmann-Horn F., Böhlen R., Dengler R., and Mertens H.G. Clinical study of paramyotonia congenita with and without myotonia in a warm environment. Muscle Nerve 4 (1981) 388-395
23. Hagberg J.M., Carroll J.E., and Brooke M.H. Endurance exercise training in a patient with central core disease. Neurology 30 (1980) 1242-1244
24. Heine R., Pika U., and Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Mol. Gen. 2 (1993) 1349-1353
25. Hoffman E.P., Lehmann-Horn F., and Rüdel R. Overexcited or inactive: ion channels in muscle diseases. Cell 80 (1995) 681-686
26. Iaizzo P.A., Klein W., and Lehmann-Horn F. Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflügers Archiv. - European J. Physiol. 411 (1988) 648-653
27. Islander G., Henriksson K.G., and Ranklev-Twetman E. Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed. Neuromusc. Disord. 5 (1995) 125-127
28. Jackson C.E., Barohn R.J., and Ptacek L.J. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve 17 (1994) 763-768
29. Jurkat-Rott K., Lehmann-Horn F., Elbaz A., Heine R., Gregg R.G., Hogan K., Powers P., Lapie P., Vale-Santos J.E., Weissenbach J., and Fontaine B. A calcium channel mutation causing hypokalemic periodic paralysis. Hum. Mol. Gen. 3 (1994) 1415-1419
30. Jurkat-Rott K., Uetz U., Pika-Hartlaub U., Powell J., Fontaine B., Melzer W., and Lehmann-Horn F. Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H). FEBS Letters 423 (1998) 198-204
31. Jurkat-Rott K., McCarthy T., and Lehmann-Horn F. Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 23 (2000) 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., and Lehmann-Horn F. Voltage sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc. Natl. Acad. Sci. USA 97 (2000) 9549-9554
33. Katz J.S., Wolfe G.I., Iannaccone S., Bryan W.W., and Barohn R.J. The exercise test in Andersen syndrome. Arch. Neurol. 56 (1999) 352-356
34. Kausch K., Lehmann-Horn F., Hartung E.J., Janka M., Wieringa B., Grimm T., and Müller C.R. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 10 (1991) 765-769
35. Kawana Y., Iino M., Horiuti K., Matsumura N., Ohta T., Matsui K., and Endo M. Acceleration in calcium-induced calcium release in the biopsied muscle fibers from patients with malignant hyperthermia. Biomed. Res. 13 (1992) 287-297
36. Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.H., and Jentsch T.J. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257 (1992) 797-800
37. Kuntzer T., Flocard F., Vial C., Kohler A., Magistris M., Labarre-Vila A., Gonnaud P.M., Ochsner F., Soichot P., Chan V., and Monnier G. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 23 (2000) 1089-1094
38. + channel mutations causing hypokalemic periodic paralysis type II. Brain 125 (2002) 835-843
39. Lapie P., Goudet C., Nargeot J., Fontaine B., and Lory P. Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle alpha ls subunit as expressed in mouse L cells. FEBS Lett. 382 (1996) 244-248
40. Larach MG for the North American Malignant Hyperthermia Group. Standardization of the caffeine halothane muscle contracture test. Anesth. Analg. 69 (1989) 511-515
41. Lehmann-Horn F., and Jurkat-Rott K. Voltagegated ion channels and hereditary disease. Physiol. Rev. 79 (1999) 1317-1371
42. Lehmann-Horn F., Küther G., Ricker K., Grafe P., Ballanyi K., and Rüdel R. Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 10 (1987) 363-374
43. Lehmann-Horn F., Rüdel R., and Ricker K. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 10 (1987) 633-641
44. + channel defect causes myotonia. Muscle Nerve 13 (1990) 528-535
45. + channels in hyperkalemic periodic paralysis. Pflügers Arch. 418 (1991) 297-299
46. Lehmann-Horn F., Rüdel R., and Ricker K. Non-dystrophic myotonias and periodic paralyses. Neuromusc. Disord. 3 (1993) 161-168
47. Lehmann-Horn F., Mailänder V., Heine R., and George A.L. Myotonia levior is a chloride channel disorder. Hum. Mol. Gen. 4 (1995) 1397-1402
48. Lerche H., Heine R., Pika U., George A.L., Mitrovic N., Browatzki M., Weiss T., Bastide-Rivet M., Franke C., LoMonaco M., Ricker K., and Lehmann-Horn F. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III/IV linker. J. Physiol. (Lond.) 470 (1993) 13-22
49. Lerche H., Mitrovic N., Dubowitz V., and Lehmann-Horn F. Pathophysiology of paramyotonia congenita: The R1448P sodium channel mutation in adult human skeletal muscle. Ann. Neurol. 39 (1996) 599-608
50. Links T.P., and Van der Hoeven J.H. Muscle fiber conduction velocity in arg 1239 his mutation in hypokalemic periodic paralysis. Muscle Nerve 23 (2000) 296
51. Links T.P., Zwarts M.J., Wilmink J.T., Molenaar W.M., and Oosterhuis H.J.G.H. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Brain 113 (1990) 1873-1889
52. Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., Day J.W., and Ranum L.P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293 (2001) 864-867
53. Lynch P.J., Tong J., Lehane M., Mallet A., Giblin L., Heffron J.J., Vaughan P., Zafra G., MacLennan D.H., and McCarthy T.V. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal calcium release channel function and severe central core disease. Proc. Natl. Acad. Sci. USA 96 (1999) 4164-4169
54. MacLennan D.H., Duff C., Zorzato F., Fujii J., Phillips M., Korneluk R.G., Frodis W., Britt B.A., and Worton R.G. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343 (1990) 559-561
55. McCarthy T.V., Healy J.M.S., Lehane M., Heffron J., Deufel T., Lehmann-Horn F., Farrall M., and Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q11.2-13.2. Nature 343 (1990) 562-563
56. McClatchey A.I., Van den Bergh P., Pericak-Vance M.A., Raskind W., Verellen C., McKenna-Yasek D., Rao K., Haines J.L., Bird T., Brown Jr. R.H., and Gusella J.F. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell 68 (1992) 769-774
57. McKusick V.A. Mendelian inheritance in man (1992), John Hopkins University Press, Baltimore
58. McManis P.G., Lambert E.H., and Daube J.R. The exercise test in periodic paralysis. Muscle Nerve 9 (1986) 704-710
59. Mindell J.A., Maduke M., Miller C., and Grigorieff N. Projection structure of a C1C-type chloride channel at 6.5 A resolution. Nature 409 (2001) 219-223
60. Mitrovic N., George Jr. A.L., Lerche H., Wagner S., Fahlke C., and Lehmann-Horn F. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J. Physiol. 487 (1995) 107-114
61. Mitrovic et al. (1999).
62. Monnier N., Procaccio V., Stieglitz P., and Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60 (1997) 1316-1325
63. Morrill J.A., and Cannon S.C. Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-Type calcium channel expressed in Xenopus laevis oocytes. J. Physiol. (Lond.) 520 (1999) 321-336
64. Nagamitsu S., Matsuura T., Khajavi M., Armstrong R., Gooch C., Harati Y., and Ashizawa T. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology 55 (2000) 1697-1703
65. Orrell R.W., Jurkat-Rott K., Lehmann-Horn F., and Lane R.J.M. Familial cramp due to potassium aggravated myotonia. J. Neurol., Neurosurg., Psychiatry 65 (1998) 569-572
66. Palade P.T., and Barchi R.L. On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids. J. Gen. Physiol. 69 (1977) 879-896
67. Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., Donaldson M.R., Iannaccone S.T., Brunt E., Barohn R., Clark J., Deymeer F., George Jr. A.L., Fish F.A., Hahn A., Nitu A., Ozdemir C., Serdaroglu P., Subramony S.H., Wolfe G., Fu Y.H., and Ptacek L.J. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105 (2001) 5191-5199
68. Ptacek L.J., George Jr. A.L., Griggs R.C., Tawil R., Kallen R.G., Barchi R.L., Robertson M., and Leppert M.F. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 67 (1991) 1021-1027
69. Ptacek L.J., George Jr. A.L., Barchi R.L., Griggs R.C., Riggs J.E., Robertson M., and Leppert M.F. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8 (1992) 891-897
70. Ptacek L.J., Tawil R., Griggs R.C., Meola G., McManis P., Barohn R.J., Mendell J.R., Harris C., Spitzer R., Santiago F., and Leppert M.F. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 44 (1994) 1500-1503
71. Pusch M., Steinmeyer K., Koch M.C., and Jentsch T.J. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron 15 (1995) 1455-1463
72. Ranum L.P., Rasmussen P.F., Benzow K.A., Koob M.D., and Day J.W. Genetic mapping of a second myotonic dystrophy locus. Nat. Genet. 19 (1998) 196-198
73. Ricker K., Haass A., Hertel G., and Mertens H.G. Transient muscular weakness in severe recessive myotonia congenita. Improvement of isometric muscle force by drugs relieving myotomic stiffness. J. Neurol. 218 (1978) 253-262
74. Ricker K., Rudel R., Lehmann-Horn F., and Küther G. Muscle stiffness and electrical activity in paramyotonia congenita. Muscle Nerve 9 (1986) 299-305
75. Ricker K., Camacho L.M., Grafe P., Lehmann-Horn F., and Rüdel R. Adynamia episodica hereditaria: what causes the weakness?. Muscle Nerve 12 (1989) 883-891
76. Ricker K., Lehmann-Horn F., and Moxley III R.T. Myotonia fluctuans. Arch. Neurol. 47 (1990) 268-272
77. Ricker K., Koch M., Lehmann-Horn F., Pongratz D., Otto M., Heine R., and Moxley R.T. Proximal myotonic myopathy (PROMM), a disorder resembling atypical myotonic dystrophy without CTG repeat expansion. Neurology 44 (1994) 1448-1452
78. Ricker R., Moxley R.T., Heine R., and Lehmann-Horn F. Myotonia fluctuans, a third type of muscle sodium channel disease. Arch. Neurol. 51 (1994) 1095-1102
79. Ricker K., Grimm T., Koch M.C., Schneider C., Kress W., Reimers C.D., Schulte-Mattler W., Mueller-Myhsok B., Toyka K.V., and Mueller C.R. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 52 (1999) 170-171
80. Rojas C.V., Wang J., Schwartz L., Hoffman E.P., Powell B.R., and Brown Jr. R.H. A Met-to-Val mutation in the skeletal muscle sodium channel α-subunit in hyperkalemic periodic paralysis. Nature 354 (1991) 387-389
81. + channel. Am. J. Physiol. 276 (1999) C259-C266
82. Rüdel R., Lehmann-Horn F., Ricker K., and Küther G. Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve 7 (1984) 110-120
83. Rüdel R., Ricker K., and Lehmann-Horn F. Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve 11 (1988) 202-211
84. + current. Neurology 53 (1999) 1556-1563
85. Sansone V., Griggs R.C., Meola G., Ptacek L.J., Barohn R., Iannaccone S., Bryan W., Baker N., Janas S.J., Scott W., Ririe D., and Tawil R. Andersen's syndrome: a distinct periodic paralysis. Ann. Neurol. 42 (1997) 305-312
86. Saviane C., Conti F., and Pusch M. The muscle chloride channel C1C-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. J. Gen. Physiol. 113 (1999) 457-468
87. Shuaib A., Paasuke R.T., and Brownell K.W. Central core disease. Clinical features in 13 patients. Medicine 66 (1987) 389-396
88. Shy G.M., and Magee K.R. A new congenital non-progressive myopathy. Brain 79 (1956) 610-621
89. Spaans F., Theunissen P., Reekers A., Smit L., and Veldman H. Schwartz-Jampel syndrome: Part I. Clinical, electromyographic, and histologic studies. Muscle Nerve 13 (1990) 516-527
90. Sternberg D., Maisonobe T., Jurkat-Rott K., Nicole S., Launay E., Chauveau D., Tabti N., Lehmann-Horn F., Hainque B., and Fontaine B. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 124 (2001) 1091-1099
91. Struyk A.F., Scoggan K.A., Bulman D.E., and Cannon S.C. The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. J. Neurosci. 20 (2000) 8610-8617
92. Subramony S.H., Wee A.S., and Mishra S.K. Lack of cold sensitivity in hyperkalemic periodic paralysis. Muscle Nerve 9 (1986) 700-703
93. Tawil R., Ptacek L.J., Pavlakis S.G., DeVivo D.C., Penn A.S., Ozdemir C., and Griggs R.C. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann. Neurol. 35 (1994) 326-330
94. Thomsen J. Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge Von ererbter psychischer Disposition. Arch. Psychiatr. Nervenkrankh. 6 (1876) 702-718
95. Tilgen N., Zorzato F., Halliger-Keller B., Muntoni F., Sewry C., Palmucci L.M., Schneider C., Hauser E., Lehmann-Horn F., Muller C.R., and Treves S. 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 (2001) 2879-2887
96. 2+ channel, a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann. Neurol. 48 (2000) 304-312
97. Troni W., Doriguzzi C., and Mongini T. Interictal conduction slowing in muscle fibers in hypokalemic periodic paralysis. Neurology 33 (1983) 1522-1525
98. Van der Hoeven J.H., Links T.P., Zwarts M.J., and Van Weerden T.W. Muscle fiber conduction velocity in the diagnosis of familial hypokalemic periodic paralysis - invasive vs. surface determination. Muscle Nerve 17 (1994) 898-905
99. 1306-to-alanine mutation in adult muscle sodium channel α-subunit gene. Anesthesiol. 82 (1995) 1097-1103
100. Wagner S., Lerche H., Mitrovic N., Heine R., George A.L., and Lehmann-Horn F. A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 49 (1997) 1018-1025
101. Wagner S., Deymeer F., Kürz L.L., Benz S., Schleithoff L., Lehmann-Horn F., Serdaroglu P., Özdemir C., and Rüdel R. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology. Muscle Nerve 21 (1998) 1122-1128
102. Weiss M.D., and Mayer R.F. Temperature-sensitive repetitive discharges in paramyotonia congenita. Muscle Nerve 20 (1997) 195-197