Title: Congenital myasthenic syndrome and minicore‐like myopathy with <i><scp>DOK7</scp></i> mutation
Abstract: Muscle & NerveVolume 48, Issue 1 p. 151-152 Letter to the Editor Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation Paulo José Lorenzoni MD, Paulo José Lorenzoni MD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorRosana Herminia Scola MD, PhD, Rosana Herminia Scola MD, PhD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorCláudia S. Kamoi Kay MD, Cláudia S. Kamoi Kay MD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorHanns Lochmüller MD, PhD, Hanns Lochmüller MD, PhD Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UKSearch for more papers by this authorLineu Cesar Werneck MD, PhD, Lineu Cesar Werneck MD, PhD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this author Paulo José Lorenzoni MD, Paulo José Lorenzoni MD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorRosana Herminia Scola MD, PhD, Rosana Herminia Scola MD, PhD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorCláudia S. Kamoi Kay MD, Cláudia S. Kamoi Kay MD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this authorHanns Lochmüller MD, PhD, Hanns Lochmüller MD, PhD Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UKSearch for more papers by this authorLineu Cesar Werneck MD, PhD, Lineu Cesar Werneck MD, PhD Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, BrazilSearch for more papers by this author First published: 18 November 2012 https://doi.org/10.1002/mus.23724Citations: 11Read 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 1Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008; 201-202: 6–12. 10.1016/j.jneuroim.2008.06.026 CASPubMedWeb of Science®Google Scholar 2Ben Ammar AB, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, et al. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. J Neurol 2010; 257: 754–766. 10.1007/s00415-009-5405-y CASPubMedWeb of Science®Google Scholar 3Gurnett CA, Bodnar JA, Neil J, Connolly AM. Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy. J Child Neurol 2004; 19: 175–182. PubMedWeb of Science®Google Scholar 4Srour M, Bolduc V, Guergueltcheva V, Lochmüller H, Gendron D, Shevell MI, et al. DOK7 mutations presenting as a proximal myopathy in French Canadians. Neuromuscul Disord 2010; 20: 453–457. 10.1016/j.nmd.2010.05.007 PubMedWeb of Science®Google Scholar 5Dubowitz V. The congenital myopathies. In: V Dubowitz, CA Sewry, RB Fitzsimons, editors. Muscle biopsy: a practical approach, 2nd ed. London: W.B. Saunders; 1985. p 420–431. Google Scholar Citing Literature Volume48, Issue1July 2013Pages 151-152 ReferencesRelatedInformation
Publication Year: 2013
Publication Date: 2013-05-09
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 13
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