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Myotonia, Potassium-Aggravated

Disease ID:770
Name:Myotonia, Potassium-Aggravated
Associated with:1 target
Acetazolamide-responsive myotonia | Myotonia fluctuans | Myotonia permanens
Database Links
OMIM: 608390
Orphanet: ORPHA99735, ORPHA99736, ORPHA99734


References:  1-2,6
Mutations:  Nav1.4 is associated with 11 mutation. Click here for details


No ligand related data available for Myotonia, Potassium-Aggravated


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1. Cannon SC. (2002) An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord, 12 (6): 533-43. [PMID:12117476]

2. George AL. (2005) Inherited disorders of voltage-gated sodium channels. J Clin Invest, 115 (8): 1990-9. [PMID:16075039]

3. Groome JR, Fujimoto E, Ruben PC. (2005) K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels. Cell Mol Neurobiol, 25 (7): 1075-92. [PMID:16392038]

4. Heine R, Pika U, Lehmann-Horn F. (1993) A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet, 2 (9): 1349-53. [PMID:8242056]

5. Lee SC, Kim HS, Park YE, Choi YC, Park KH, Kim DS. (2009) Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. J Clin Neurol, 5 (4): 186-91. [PMID:20076800]

6. Lehmann-Horn F, Jurkat-Rott K. (1999) Voltage-gated ion channels and hereditary disease. Physiol Rev, 79 (4): 1317-72. [PMID:10508236]

7. Lerche H, Heine R, Pika U, George AL, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M. (1993) Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol (Lond.), 470: 13-22. [PMID:8308722]

8. McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH. (1992) Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet, 2 (2): 148-52. [PMID:1338909]

9. McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown Jr RH et al.. (1992) Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell, 68 (4): 769-74. [PMID:1310898]

10. Mitrović N, George AL, Lerche H, Wagner S, Fahlke C, 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 (Lond.), 487 ( Pt 1): 107-14. [PMID:7473241]

11. Petitprez S, Tiab L, Chen L, Kappeler L, Rösler KM, Schorderet D, Abriel H, Burgunder JM. (2008) A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology, 71 (21): 1669-75. [PMID:19015483]

12. Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F et al.. (1994) Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology, 44 (8): 1500-3. [PMID:8058156]

13. Ricker K, Moxley RT, Heine R, Lehmann-Horn F. (1994) Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol, 51 (11): 1095-102. [PMID:7980103]

14. Rosenbohm A, Rüdel R, Fahlke C. (1999) Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C. J Physiol (Lond.), 514 ( Pt 3): 677-85. [PMID:9882739]

15. Stunnenberg BC, Ginjaar HB, Trip J, Faber CG, van Engelen BG, Drost G. (2010) Isolated eyelid closure myotonia in two families with sodium channel myotonia. Neurogenetics, 11 (2): 257-60. [PMID:19876661]