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A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

2012; Wiley; Volume: 27; Issue: 9 Linguagem: Inglês

10.1002/mds.25083

1531-8257

Claudia Perandones, Federico Micheli, Luis A. Pellene, Marta A. Bayly, Samuel F. Berkovic, Leanne M. Dibbens,

Cellular transport and secretion

Movement DisordersVolume 27, Issue 9 p. 1200-1201 Letter: New Observations A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2†‡§¶ Claudia Perandones, Claudia Perandones National Administration of Laboratories and Health Institutes of Argentina, Dr. Carlos G. Malbrán, Buenos Aires, Argentina Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorFederico E. Micheli, Federico E. Micheli Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorLuis A. Pellene, Luis A. Pellene Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorMarta A. Bayly, Marta A. Bayly Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaSearch for more papers by this authorSamuel F. Berkovic, Samuel F. Berkovic Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Melbourne, Victoria, AustraliaSearch for more papers by this authorLeanne M. Dibbens, Corresponding Author Leanne M. Dibbens leanne.dibbens@unisa.edu.au Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaEpilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaSearch for more papers by this author Claudia Perandones, Claudia Perandones National Administration of Laboratories and Health Institutes of Argentina, Dr. Carlos G. Malbrán, Buenos Aires, Argentina Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorFederico E. Micheli, Federico E. Micheli Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorLuis A. Pellene, Luis A. Pellene Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, ArgentinaSearch for more papers by this authorMarta A. Bayly, Marta A. Bayly Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaSearch for more papers by this authorSamuel F. Berkovic, Samuel F. Berkovic Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Melbourne, Victoria, AustraliaSearch for more papers by this authorLeanne M. Dibbens, Corresponding Author Leanne M. Dibbens leanne.dibbens@unisa.edu.au Epilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaEpilepsy Research Program, School of Pharmacy and Medical Sciences P4-47, University of South Australia, Adelaide, South Australia, AustraliaSearch for more papers by this author First published: 05 July 2012 https://doi.org/10.1002/mds.25083Citations: 15 † Funding agencies:: This work was supported by the National and Medical Research Council of Australia (program grant 628952, to S.F.B. and L.M.D.; career development fellowship 1032603, to L.M.D.) and The Women's and Children's Hospital Foundation (to M.B.). ‡ Relevant conflicts of interest/financial disclosures:: Nothing to report. § Full financial disclosures and author roles may be found in the online version of this article. ¶ All authors contributed to the preparation, writing and editing of the manuscript. Read 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 onFacebookTwitterLinked InRedditWechat Citing Literature Volume27, Issue9August 2012Pages 1200-1201 RelatedInformation