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Becker myotonia-a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype

2014; Wiley; Volume: 51; Issue: 6 Linguagem: Inglês

10.1002/mus.24534

1097-4598

Sandra Moreira, Rui Barreto, José Mário Roriz,

Muscle Physiology and Disorders

Muscle & NerveVolume 51, Issue 6 p. 933-934 Letter to the Editor Becker myotonia—a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype Sandra D. Moreira MD, Sandra D. Moreira MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this authorRui Barreto MD, Rui Barreto MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this authorJosé Mário Roriz MD, José Mário Roriz MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this author Sandra D. Moreira MD, Sandra D. Moreira MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this authorRui Barreto MD, Rui Barreto MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this authorJosé Mário Roriz MD, José Mário Roriz MD Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, PortugalSearch for more papers by this author First published: 09 December 2014 https://doi.org/10.1002/mus.24534Citations: 4Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, et al. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype. Muscle Nerve 2012; 45: 279–283. 2 Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Human Mutat 2002; 19: 423–434. 3 Colding-Jorgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve 2005; 32: 19–34. 4 Duno M, Colding-Jorgensen E. Myotonia congenita. In: RA Pagon, TD Bird, CR Dolan, K Stephens, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. 12 April 2011. 5 Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 2013; 136: 2189–200. 6 Du H, Grob SR, Zhao L, Lee J, El-Sahn M, Hughes G, et al. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene. Eye 2012; 26: 1039–1043. 7 Trudell RG, Kaiser KK, Griggs RC. Acetazolamide-responsive myotonia congenita. Neurology 1987; 37: 488–491. 8 Griggs RC, Moxley RT III, Riggs JE, Engel WK. Effects of acetazolamide on myotonia. Ann Neurol 1978; 3: 531–537. 9 Eguchi H, Tsujino A, Kaibara M, Hayashi H, Shirabe S, Taniyama K, et al. Acetazolamide acts directly on the human skeletal muscle chloride channel. Muscle Nerve 2006; 34: 292–297. Citing Literature Volume51, Issue6June 2015Pages 933-934 ReferencesRelatedInformation