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Paramyotonia Congenita of Von Eulenburg

Disease ID:730
Name:Paramyotonia Congenita of Von Eulenburg
Associated with:1 target
Database Links
OMIM: 168300
Orphanet: ORPHA684


References:  4,8,10
Mutations:  Nav1.4 is associated with 17 mutation. Click here for details


No ligand related data available for Paramyotonia Congenita of Von Eulenburg


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1. Arzel-Hézode M, Sternberg D, Tabti N, Vicart S, Goizet C, Eymard B, Fontaine B, Fournier E. (2010) Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle Nerve, 41 (4): 470-7. [PMID:19882638]

2. Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ. (1999) Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol (Lond.), 518 ( Pt 2): 337-44. [PMID:10381583]

3. Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N. (2004) Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol (Lond.), 554 (Pt 3): 635-47. [PMID:14617673]

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

5. Dice MS, Abbruzzese JL, Wheeler JT, Groome JR, Fujimoto E, Ruben PC. (2004) Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. Muscle Nerve, 30 (3): 277-88. [PMID:15318338]

6. Fleischhauer R, Mitrovic N, Deymeer F, Lehmann-Horn F, Lerche H. (1998) Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita. Pflugers Arch, 436 (5): 757-65. [PMID:9716710]

7. Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D et al.. (2008) Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A, 146 (3): 380-3. [PMID:18203179]

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

9. Green DS, George AL, Cannon SC. (1998) Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I. J Physiol (Lond.), 510 ( Pt 3): 685-94. [PMID:9660885]

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

11. Lehmann-Horn F, Rüdel R, Ricker K. (1993) Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. Neuromuscul Disord, 3 (2): 161-8. [PMID:7689382]

12. Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F. (1996) Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol, 39 (5): 599-608. [PMID:8619545]

13. Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K. (2001) Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation. J Neurol, 248 (11): 1003-4. [PMID:11757950]

14. Ptacek LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, Barohn RJ, George Jr AL, Barchi RL, Robertson M, Leppert MF. (1993) Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol, 33 (3): 300-7. [PMID:8388676]

15. Ptácek LJ, George Jr AL, 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 (5): 891-7. [PMID:1316765]

16. Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, Hoffman EP. (2001) A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation. Neurology, 56 (7): 878-84. [PMID:11294924]