Congenital myotonia: Report of seven patients;Miotonia congenita. Relato de sete pacientes

Arquivos de Neuro-Psiquiatria

Volumn 54, Issue 4, 1996, Pages 595-600

  Azevedo, Helga C A ^a,b   Mendonça, Lúcia I Z ^a   Salum, Paulo N B ^a   Carvalho, Mary S ^a   Nagahashi Marie, Sueli K ^a   Siqueira Carvalho, Alzira A ^a   Cerqueira, Maria A ^a   Reed, Umbertina C ^a   Levy, José A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NONE   (Brazil)

Author keywords

ionic channel diseases; myotonia; periodic paralysis; Thomsen's disease

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL BLOCKING AGENT; CARBAMAZEPINE; ION CHANNEL; PHENYTOIN; PROCAINAMIDE; QUINIDINE; THIAZIDE DIURETIC AGENT;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DISORDER; CLINICAL ARTICLE; CONGENITAL DISORDER; FEMALE; HEREDITY; HUMAN; MALE; MUSCLE HYPERTROPHY; MYOTONIA; PARALYSIS; CASE REPORT; MIDDLE AGED; THOMSEN DISEASE;

ADOLESCENT; ADULT; FEMALE; HUMANS; MALE; MIDDLE AGED; MYOTONIA CONGENITA;

EID: 0029912596     PISSN: 0004282X     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0004-282x1996000400008     Document Type: Article

References (22)

1. Abdalla JA, Casley WL, Cousin HK, Hudson AJ, Murphy EG, Cornélis FC, Hashimoto L, Ebers GC. Linkage of Thomsen disease to the T cell receptor beta (TCRB) locus on chromosome 7 q 35. Am J Hum Genet 1992;51:579-584.
2. Barchi RL. The nondystrophic myotonic syndromes. In Rowland LP, DiMauro S (eds). Handbook of clinical neurology, Vol 18(62). New York: Elsevier, 1992:261-286.
3. Deymeer F, Çakirkaya S, Gültekin SH, Bayindir Ç, Öge AE, Serdaroglu P, Özdemir C. Recessive generalized myotonia. Acta Cardiomiol 1993;5:91-97.
4. Gutmann L, Phillips LH. Myotonia congenita Sem Neurol 1991,11:244-248.
5. Hoffman EP, Wang J. Duchene-Becker muscular dystrophy and the nondystrophic myotonias. Arch Neurol 1993;50:1227-1237.
6. Hoffman EP. Voltage-gated ion channelopathies. Annu Rev Med 1995;46:431-41.
7. Kock MC, Ricker SK, Otto M, Wolff F, Zoli B, Lorenz C, Steinmeyer K, Jentsch TJ. Evidence of genetic homogeneity in autossomal recessive generalized myotonia (Becker). J Med Genet 1993,30:914-917.
8. Kock MC, Steinmeyer K., Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
9. Kwiecinski H, Ryniewicz B, Ostrzycki A Treatment of myotonia with antiarythmic drugs. Acta Neurol Scand 1992;86:371-375.
10. Lehmann-Horn F, Reinhardt R. Hereditary nondystrophic myotonias and periodic paralyses. Cur Opin Neurol 1995;8:402-410.
11. Nadkarmi N, Prior TW, Mendell JR. The impact of molecular genetics on the care of patients with muscle disease. Cur Opin Neurol 1994;7:435-447.
12. Nonaka I, Satoyoshi E. Myotonic disorders. In Mastaglia FL, Defchant IW (eds). Skeletal muscle pathology. New York Churchill Livingstone, 1992;319-342.
13. Passos-Bueno MR, Cerqueira A, Vainzof M, Marie SK and Zatz M Myotonic dystrophy: genetic, clinical and molecular analysis of patients from 41 Brazilian families. J Med Genet 1995;32:14-19.
14. Ptacek LJ, Johnson KJ, Griggs RC Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993;328:482-489.
15. Ptacek LJ, Zifer FA, Roberts JW, Leppert MF. Evidence of genetic heterogeneity among the nondystrophic myotonias. Neurology 1992;42:1046-1048.
16. Ptacek LJ, Tawil R, Griggs RC, Meola G, Mc Manes P, Barohn RJ, Mondell JR, Harris C, Spitzer R., Santiago F, Leppert MF. Sodium channel mutations in acetazolamide - responsive myotoni a congenita, paramyotonia congenita and hyperkalemic period paralysis. Neurology 1994;44:1500-1503.
17. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT. Proximal myotonic myopathy. Neurology 1994,44:1448-1452.
18. Ricker K, Moxley RT, Heine R, Lehmann-Horn F. Myotonia fluctuans. Arch Neurol 1994;51:1095-1102.
19. Rudel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 1993;50:1241-1248.
20. Russel SH, Hirsch NP. Anaesthesia and myotonia. Br J Anaesth 1994;72:210-216
21. Topaloglu H, Serdaroglu A, Okan M, Güc̈yener K, Topçu M. Improvement of myotonia in three cases with the Schwartz-Jampel syndrome. Neuropediatrics 1993;24:232-234.
22. Zatz M, Passos-Bueno MR, Cerqueira A, Marie S, Vainzof M, Pavanello RCM. Analysis of CTG repeat in skeletal muscle of myotonic dystrophy young and adult patients: when does the expansion occur? Hum Molec Genet 1995;4:401-406.