myotonia congenita

Summary

Summary: Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.

Top Publications

  1. Wu F, Ryan A, Devaney J, Warnstedt M, Korade Mirnics Z, Poser B, et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain. 2002;125:2392-407 pubmed
    ..While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a ..
  2. Dunø M, Colding Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet. 2004;12:738-43 pubmed
    ..in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC)...
  3. Lehmann Horn F, Mailänder V, Heine R, George A. Myotonia levior is a chloride channel disorder. Hum Mol Genet. 1995;4:1397-402 pubmed
    ..Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on ..
  4. Chrestian N, Puymirat J, Bouchard J, Dupre N. Myotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol. 2006;2:393-9; quiz following 399 pubmed
    ..A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy...
  5. Mailänder V, Heine R, Deymeer F, Lehmann Horn F. Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet. 1996;58:317-24 pubmed
    ..We discuss potential causes of the gender preference and the molecular mechanisms that may determine the mode of inheritance...
  6. Lin M, You T, Pan H, Hsiao K. Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression. Biochem Biophys Res Commun. 2006;351:1043-7 pubmed
    Mutations in the CLCN1 gene frequently associate with myotonia congenita (MC). We have recently reported several CLCN1 mutants in Taiwanese patients...
  7. Bhalerao D, Rajpurohit Y, Vite C, Giger U. Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor. Am J Vet Res. 2002;63:1443-7 pubmed
    To develop a molecular genetic test to detect the mutant skeletal muscle chloride channel (CIC-1) allele that causes myotonia congenita in Miniature Schnauzers and to analyze the relationship of affected and carrier dogs.
  8. McClatchey A, Van den Bergh P, Pericak Vance M, Raskind W, Verellen C, McKenna Yasek D, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992;68:769-74 pubmed
    ..Abnormal function of this cytoplasmic loop therefore appears to produce the Na+ current abnormality and the unique temperature-sensitive clinical phenotype in this disorder...
  9. Rosenfeld J, Sloan Brown K, George A. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol. 1997;42:811-4 pubmed
    ..Myotonia was resistant to treatment; however, the most severely affected family member responded dramatically to the sodium channel blocking agent flecainide...

More Information

Publications74

  1. Mitchell C, Bertorini T. Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases. Arch Phys Med Rehabil. 2007;88:1212-3 pubmed
    ..increased insertional activity on electromyography who had mutations of the CLCN1 gene associated with myotonia congenita. Neither patient had symptoms or reproducible signs of this disorder...
  2. Weinberger S, Wojciechowski D, Sternberg D, Lehmann Horn F, Jurkat Rott K, Becher T, et al. Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. J Physiol. 2012;590:3449-64 pubmed publisher
    b>Myotonia congenita is a genetic condition that is caused by mutations in the muscle chloride channel gene CLCN1 and characterized by delayed muscle relaxation and muscle stiffness...
  3. Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, et al. Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J Neurol Sci. 2012;318:65-71 pubmed publisher
    b>Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) ..
  4. Heine R, George A, Pika U, Deymeer F, Rudel R, Lehmann Horn F. Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. Hum Mol Genet. 1994;3:1123-8 pubmed
    Recessive myotonia congenita (Becker) is genetically linked to HUMCLC, the gene encoding the muscular chloride channel, localized on chromosome 7q35...
  5. Moon I, Kim H, Shin J, Park Y, Park K, Shin Y, et al. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. J Korean Med Sci. 2009;24:1038-44 pubmed publisher
    b>Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1)...
  6. Kornblum C, Lutterbey G, Czermin B, Reimann J, von Kleist Retzow J, Jurkat Rott K, et al. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Acta Neurol Scand. 2010;121:131-5 pubmed publisher
    ..We hypothesized that in severe myotonia congenita type Becker muscle stiffness, prolonged transient weakness and muscle hypertrophy might finally result in ..
  7. Koch M, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992;257:797-800 pubmed
    Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability...
  8. Modoni A, D Amico A, Dallapiccola B, Mereu M, Merlini L, Pagliarani S, et al. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. J Clin Neurophysiol. 2011;28:39-44 pubmed publisher
    ..potential during repetitive nerve stimulation is a well-documented neurophysiologic finding in recessive myotonia congenita. It represents the neurophysiologic counterpart of the transitory weakness often impairing patients at the ..
  9. Fialho D, Kullmann D, Hanna M, Schorge S. Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita. Neuromuscul Disord. 2008;18:869-72 pubmed publisher
    b>Myotonia congenita is caused by mutations in the voltage-gated chloride channel ClC-1. It is more severe in men than women and often worsens during pregnancy, but the basis for these gender differences is not known...
  10. Savitha M, Krishnamurthy B, Hyderi A, Farhan Ul Haque -, Ramachandra N. Myotonia congenita--a successful response to carbamazepine. Indian J Pediatr. 2006;73:431-3 pubmed
    b>Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course...
  11. van Beekvelt M, Drost G, Rongen G, Stegeman D, van Engelen B, Zwarts M. Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia. Muscle Nerve. 2006;33:514-23 pubmed
    ..Ouabain infusion did not affect the recovery from transient paresis or the accompanying electromyographic changes, indicating that the warming-up phenomenon in generalized myotonia is not mediated by Na(+)-K(+)-ATPase...
  12. Jou S, Chang L, Pan H, Chen P, Hsiao K. Novel CLCN1 mutations in Taiwanese patients with myotonia congenita. J Neurol. 2004;251:666-70 pubmed
    ..A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined...
  13. Hoppe K, Lehmann Horn F, Chaiklieng S, Jurkat Rott K, Adolph O, Klingler W. In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita. Acta Anaesthesiol Scand. 2013;57:1017-23 pubmed publisher
    A common form of congenital myotonia, myotonia congenita (MC), is caused by mutations in the skeletal muscle Cl(-) channel gene type 1 (CLCN1)...
  14. Colding Jørgensen E, Dunø M, Schwartz M, Vissing J. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve. 2003;27:449-55 pubmed
    ..potential (CMAP) during 10-HZ repetitive nerve stimulation is thought to be an unusual finding in dominant myotonia congenita, and has not previously been reported in patients with the genetically verified disorder...
  15. George A, Crackower M, Abdalla J, Hudson A, Ebers G. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993;3:305-10 pubmed
    Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC)...
  16. Ptacek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994;44:1500-3 pubmed
    ..We also report the putative disease-causing mutation in acetazolamide-responsive myotonia congenita, a related disease in which myotonia is worsened by potassium but in which episodic weakness does not occur...
  17. Zhang J, Bendahhou S, Sanguinetti M, Ptacek L. Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology. 2000;54:937-42 pubmed
    To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.
  18. Rhodes T, Vite C, Giger U, Patterson D, Fahlke C, George A. A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog. FEBS Lett. 1999;456:54-8 pubmed
    b>Myotonia congenita is an inherited disorder of sarcolemmal excitation leading to delayed relaxation of skeletal muscle following contractions...
  19. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet. 2001;9:903-9 pubmed
    b>Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane...
  20. Lyons M, Duron R, Molinero I, Sangiuolo F, Holden K. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. Pediatr Neurol. 2010;42:365-8 pubmed publisher
    b>Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner...
  21. Gao F, Ma F, Yuan Z, Yang C, Li H, Xia Z, et al. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. Neurol India. 2010;58:743-6 pubmed publisher
    b>Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1). To date, approximately 130 different mutations on the CLCN1 gene have been identified...
  22. George A, Sloan Brown K, Fenichel G, Mitchell G, Spiegel R, Pascuzzi R. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet. 1994;3:2071-2 pubmed
  23. Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Clin Genet. 2011;80:574-80 pubmed publisher
    ..Heterozygosity for p.Phe413Cys seems to exaggerate the severity of myotonia and thereby, to some degree, contributing to the pronounced variability in the myotonic phenotype in this family...
  24. Richman D, Yu Y, Lee T, Tseng P, Yu W, Maselli R, et al. Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1. Neuromolecular Med. 2012;14:328-37 pubmed publisher
    b>Myotonia congenita-inducing mutations in the muscle chloride channel CLC-1 normally result in reduced open probability (P (o)) of this channel...
  25. Plassart Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter J, et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology. 1998;50:1176-9 pubmed
    Autosomal-dominant and -recessive myotonia congenita are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). We searched for mutations in this gene in 20 unrelated families with myotonia congenita...
  26. Kubisch C, Schmidt Rose T, Fontaine B, Bretag A, Jentsch T. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet. 1998;7:1753-60 pubmed
    Mutations in the ClC-1 muscle chloride channel cause either recessive or dominant myotonia congenita. Using a systematic screening procedure, we have now identified four novel missense mutations in dominant (V286A, F307S) and recessive ..
  27. Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, et al. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Hum Mutat. 1998;11:331 pubmed
    Autosomal dominant myotonia congenita or Thomsen's disease and autosomal recessive myotonia congenita or Becker's are rare nondystrophic disorders due to allelic mutations of the muscle chloride channel gene, CLCN1...
  28. Warnstedt M, Sun C, Poser B, Escriva M, Tranebjaerg L, Torbergsen T, et al. The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1. J Neurosci. 2002;22:7462-70 pubmed
    Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction...
  29. Lee T, Zhang X, Chuang C, Chen J, Chen Y, Chen S, et al. Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. PLoS ONE. 2013;8:e55930 pubmed publisher
    b>Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1...
  30. Hammarén E, Kjellby Wendt G, Lindberg C. Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist. Neuromuscul Disord. 2005;15:610-7 pubmed
    ..These methods were used in the assessment of treatment efficacy of mexiletine. Six male patients with myotonia congenita followed a standardised protocol with time scoring and rest on two occasions, with and without mexiletine...
  31. Colding Jørgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve. 2005;32:19-34 pubmed
    b>Myotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7...
  32. Nagamitsu S, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, et al. A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene. Neurology. 2000;55:1697-703 pubmed
    ..To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy...
  33. Richardson R, Tarleton J, Bird T, Gospe S. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. Muscle Nerve. 2014;49:593-600 pubmed publisher
    b>Myotonia congenita due to protein truncating CLCN1 mutations is associated with variable patterns of inheritance.
  34. Lossin C, George A. Myotonia congenita. Adv Genet. 2008;63:25-55 pubmed publisher
    ..b>Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride ..
  35. Brugnoni R, Kapetis D, Imbrici P, Pessia M, Canioni E, Colleoni L, et al. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet. 2013;58:581-7 pubmed publisher
    b>Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated ..
  36. Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev S, et al. Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. Muscle Nerve. 2010;41:464-9 pubmed publisher
    ..mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab family with myotonia congenita. Twenty-four family members from three generations were interviewed and examined...
  37. Kuo H, Hsiao K, Chang L, You T, Yeh T, Huang C. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. Acta Neurol Scand. 2006;113:342-6 pubmed
    b>Myotonia congenita (MC), caused by mutations in the muscle chloride channel (CLCN1) gene, can be inherited dominantly or recessively...
  38. Steinmeyer K, Lorenz C, Pusch M, Koch M, Jentsch T. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994;13:737-43 pubmed
    ..This is based on analysis of the dominant negative effects of ClC-1 mutations causing myotonia congenita (MC, Thomsen's disease), including a newly identified mutation (P480L) in Thomsen's own family...
  39. Fialho D, Schorge S, Pucovska U, Davies N, Labrum R, Haworth A, et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain. 2007;130:3265-74 pubmed
    b>Myotonia congenita (MC) is the commonest genetic skeletal muscle ion channelopathy. It is caused by mutations in CLCN1 on chromosome 7q35, which alter the function of the major skeletal muscle voltage-gated chloride channel...
  40. Pusch M, Steinmeyer K, Koch M, Jentsch T. Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron. 1995;15:1455-63 pubmed
    Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1...
  41. Fahlke C, Beck C, George A. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A. 1997;94:2729-34 pubmed
    Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene (CLCN1, 7q35)...
  42. Imbrici P, Altamura C, Camerino G, Mangiatordi G, Conte E, Maggi L, et al. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. FASEB J. 2016;30:3285-3295 pubmed
    b>Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel...
  43. Zielonka D, Jurkat Rott K, Stachowiak P, Bryl A, Marcinkowski J, Lehmann Horn F. A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris. Neuromuscul Disord. 2012;22:355-60 pubmed publisher
    ..R894X CLCN1 mutation. CLCN1 exon number variation was excluded by MLPA. His son with latent myotonia was heterozygeous for p.R894X. We discuss the potential relations of the three rare diseases and the inheritance of p.R894X. ..
  44. Wakeman B, Babu D, Tarleton J, Macdonald I. Extraocular muscle hypertrophy in myotonia congenita. J AAPOS. 2008;12:294-6 pubmed publisher
    b>Myotonia congenita (MC) is a rare disorder of skeletal muscle caused by mutations in the CLCN1 gene,(1,2) which encodes the chloride ion channel found in the t-tubule of skeletal muscle...
  45. Voermans N, Jungbluth H, Aronica E, Monnier N, Lunardi J, Swash M, et al. Congenital myopathy with focal loss of cross-striations revisited. Neuromuscul Disord. 2013;23:160-4 pubmed publisher
    ..10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement. ..
  46. Andersen S, Sveen M, Hansen R, Madsen K, Hansen J, Madsen M, et al. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy. Muscle Nerve. 2013;48:897-901 pubmed publisher
    ..The findings suggest that high-intensity exercise is generally well tolerated in patients with LGMD2 and FSHD, whereas those with BMD may be more prone to exercise-induced damage. ..
  47. Colding Jørgensen E, Duno M, Vissing J. Autosomal dominant monosymptomatic myotonia permanens. Neurology. 2006;67:153-5 pubmed
    ..The authors report a family in which the disease is autosomal dominantly inherited. The patients have severe myotonia, but the clinical picture is not qualitatively different from that seen in other nondystrophic myotonias. ..
  48. Drogemuller C, Drogemuller M, Leeb T, Mascarello F, Testoni S, Rossi M, et al. Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. Genomics. 2008;92:474-7 pubmed publisher
    ..491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease...
  49. Chang T, Kuo H, Hsiao K, Huang C. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation. Acta Neurol Taiwan. 2007;16:214-20 pubmed
    b>Myotonia congenita (MC), whether inherited in autosomal dominant or recessive form, is caused by mutation of CLCN1 on chromosome 7 and associated with impaired skeletal muscle relaxation after contraction...
  50. Scola R, Iwamoto F, Camargo C, Arruda W, Werneck L. Myotonia congenita and myoadenylate deaminase deficiency: case report. Arq Neuropsiquiatr. 2003;61:262-4 pubmed
    ..We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy...
  51. Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. J Child Neurol. 2008;23:163-6 pubmed publisher
    ..mutations in the CLCN1 gene coding for the voltage-gated chloride channel have been documented to cause myotonia congenita. We report a kindred featuring an index patient who possesses 2 copies of a dominantly inherited mutated ..
  52. Georgesco M, Salerno A. [Spontaneous electromyographic activity. Practical importance]. Neurophysiol Clin. 2000;30:289-305 pubmed
    ..The practical consequences are discussed and a new classification of these spontaneous activities is proposed...
  53. Horstick E, Linsley J, Dowling J, Hauser M, McDonald K, Ashley Koch A, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 2013;4:1952 pubmed publisher
    ..Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies. ..
  54. Caballero P. Becker myotonia congenita associated with Wolff-Parkinson-White syndrome. Neurologist. 2011;17:38-40 pubmed publisher
    ..Becker's myotonia congenita may exceptionally be associated with cardiopathy, thus patients with this disorder should have a cardiac ..
  55. Yamamoto J, Hokkoku K, Hatanaka Y, Sakoda S, Yuan J, Sonoo M. An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease. Rinsho Shinkeigaku. 2017;57:287-292 pubmed publisher
    ..He was probably the first case of sodium channel myotonia with transient weakness upon initiating movements, which was confirmed by 10?Hz repetitive nerve stimulation test as depolarization block...
  56. Hahn A, Parkes A, Bolton C, Stewart S. Neuromyotonia in hereditary motor neuropathy. J Neurol Neurosurg Psychiatry. 1991;54:230-5 pubmed
    ..Symptoms were improved with diphenylhydantoin, carbamazepine and tocainide...
  57. Wappler F. [Current aspects of anesthesia in neuromuscular diseases]. Anasthesiol Intensivmed Notfallmed Schmerzther. 2003;38:495-9 pubmed
  58. Ryan A, Matthews E, Hanna M. Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias. Curr Opin Neurol. 2007;20:558-63 pubmed
    ..To provide a current review of clinical phenotypes, genetics, molecular pathophysiology, and electro-diagnostic testing strategies of periodic paralysis and nondystrophic myotonias...
  59. Gay S, Dupuis D, Faivre L, Masurel Paulet A, Labenne M, Colombani M, et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A. 2008;146A:380-3 pubmed publisher
    ..Our observation expands the phenotypic spectrum of sodium channelopathies...
  60. Leifsdóttir G, Benedikz J, Jóhannesson G, Jonsson J, Sveinbjornsdottir S. [Prevalence of myotonic dystrophy in Iceland]. Laeknabladid. 2005;91:829-34 pubmed
    ..Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105. We carried out a total population survey of DM in Iceland in 2004 having Oct. 31 as the day of prevalence...
  61. Spire M, Tilikete C, Habault C, Vial J, Kodjikian L, Grange J. [Thomsen myotonia congenita and strabismus: recording saccades in myotonic diseases]. J Fr Ophtalmol. 2006;29:271-80 pubmed
    ..We successively studied seven isolated patients presenting a myotonic disease and two controls and recorded the ocular saccades of these patients (amplitude, velocity) as a comparison for our family case...
  62. Wijnberg I, Owczarek Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, et al. A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscul Disord. 2012;22:361-7 pubmed publisher
    ..The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia...
  63. Camerino D, Pierno S, De Luca A, Bryant S. Antimyotonic effects of tocainide enantiomers on skeletal muscle fibers of congenitally myotonic goats. Neuromuscul Disord. 2000;10:160-4 pubmed
    ..The results show that most of the antimyotonic activity of tocainide resides in the R(-) enantiomer suggesting that its clinical use may allow a significant reduction of the doses and possibly of the side effects...
  64. Morales F, Cuenca P, Del Valle G, Vásquez M, Brian R, Sittenfeld M, et al. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Rev Biol Trop. 2008;56:1-11 pubmed
    b>Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively...
  65. Thomas J, Tarleton J, Baker S. Recessive CLCN1 mutation presenting as Thomsen disease. Muscle Nerve. 2008;38:1515-1517 pubmed publisher
    ..Investigations not only confirmed Thomsen myotonia, but also led to the identification of a previously reported heterozygous Becker mutation in both the proband and his mother...