Myotonia, Potassium-Aggravated

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

Targets

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

Ligands

No ligand related data available for Myotonia, Potassium-Aggravated

References

Show »

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 RH. (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. (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]