Myotonia fluctuans: A third type of muscle sodium channel disease

Archives of Neurology

Volumn 51, Issue 11, 1994, Pages 1095-1102

  Ricker, Kenneth ^a   Moxley, Richard T ^b   Heine, Roland ^c   Lehmann Horn, Frank ^c  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF ROCHESTER   (United States)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; MEXILETINE; POTASSIUM; SODIUM CHANNEL;

ARTICLE; BICYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; COOLING; DISEASE CLASSIFICATION; DNA SEQUENCE; ELECTROPHYSIOLOGY; EXERCISE TEST; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; MUSCLE BIOPSY; MYOTONIA; PERIODIC PARALYSIS; PRIORITY JOURNAL; THOMSEN DISEASE;

BASE SEQUENCE; EXERCISE TEST; FEMALE; FOREARM; HUMAN; MALE; MEXILETINE; MOLECULAR SEQUENCE DATA; MYOTONIA; POTASSIUM; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS; SUPPORT, U.S. GOV'T, P.H.S.; TEMPERATURE;

EID: 0028061597     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.1994.00540230033009     Document Type: Article

References (27)

1. Ricker K, Lehmann-Horn F, Moxley RT III. Myotonia fluctuans. Arch Neurol. 1990;47:268-272.
2. Lennox G, Purves A, Marsden D. Myotonia fluctuans. Arch Neurol. 1992:49: 1010-1011.
3. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992;257:797-800.
4. George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nature Genet. 1993;3:305-309.
5. Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990:250: 1000-1003.
6. Ptácek LJ, Trimmer JS, Agnew WS, et al. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus. Am J Hum Genet. 1991;49:851-854.
7. Koch MC, Ricker K, Otto M, et al. Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet. 1991;88:71-74.
8. Ebers GC, George AL, Barchi RL, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol. 1991;30:810-816.
9. McClatchey AI, McKenna-Yasek D, Cros D, et al. Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genet. 1992;2:148-152.
10. McClatchey AI, Van den Bergh P, Pericak-Vance MA, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992;68:769-774.
11. Lerche H, Heine R, Pika U, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III/IV linker. J Physiol. 1993;470:13-22.
12. Heine R, Pika U, Lehmann-Horn F. A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet. 1993;2:1349-1353.
13. Rüdel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol. 1993;50:1241-1248.
14. Becker PE. Myotonia Congenita and Syndromes Associated With Myotonia. Stuttgart, Germany: Georg Thieme Verlag; 1977.
15. Harper PS. Myotonic Dystrophy. 2nd ed. Philadelphia, Pa: WB Saunders Co; 1989.
16. European Malignant Hyperthermia Group. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth. 1984;56:1267-1269.
17. Lehmann-Horn F, Iaizzo PA. Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? Br J Anaesth. 1990;65:692-697.
18. George AL Jr, Iyer GS, Kleinfeld R, Kallen RG, Barchi RL. Genomic organization of the human skeletal muscle sodium channel gene. Genomics. 1993;15: 598-606.
19. Schröder JM, Becker PE. Alterations of the T-system and the sarcoplasmic reticulum in myotonia, paramyotonia and adynamia. Virchows Arch Pathol Anat. 1972;357:319-344.
20. Iaizzo PA, Franke CH, Spittelmeister W, Ricker K, Rüdel R, Lehmann-Horn F. Altered sodium channel behaviour causes myotonia in dominant myotonia congenita. Neuromusc Disord. 1991;1:47-53.
21. Lehmann-Horn F, Engel AG, Ricker K, Rüdel R. Periodic paralyses and paramyotonia congenita. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York, NY: McGraw-Hill International Book Co. In press.
22. Ptácek LF, Tawil R, Griggs C, Storvick MS, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992;42:431-433.
23. Lehmann-Horn F, Rüdel R, Ricker K. Membrane defects in paramyotonia congenita (Eulenberg). Muscle Nerve. 1987;10:633-641.
24. Ptácek LJ, George AL Jr, Barchi RL, et al. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992;8:891-897.
25. Ptácek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993; 33:300-307.
26. Wang J, Zhou J, Todorovic SM, et al. Molecular genetic and genetic correlations in sodium channelopathies. Am J Hum Genet. 1993;52:1074-1084.
27. Ptácek LJ, George AL Jr, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991;67:1021-1027.