Produção Nacional
Revisado por pares
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report
2008; Wiley; Volume: 23; Issue: 8 Linguagem: Inglês
10.1002/mds.21990
ISSN1531-8257
AutoresHélio A.G. Teive, Renato P. Munhoz, Juliano André Muzzio, Rosana Hermínia Scola, Claudia Kay, Salmo Raskin, Lineu César Werneck, Helene Bruhn,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoMovement DisordersVolume 23, Issue 8 p. 1191-1192 Letters to the Editor Related to New Topics Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report Hélio A.G. Teive MD, PhD, Corresponding Author Hélio A.G. Teive MD, PhD [email protected] Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilMovement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorRenato P. Munhoz MD, Renato P. Munhoz MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorJuliano A. Muzzio MD, Juliano A. Muzzio MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorRosana H. Scola MD, PhD, Rosana H. Scola MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorCláudia K. Kay MD, Cláudia K. Kay MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorSalmo Raskin MD, PhD, Salmo Raskin MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorLineu C. Werneck MD, PhD, Lineu C. Werneck MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorHelene Bruhn MSc, Helene Bruhn MSc Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Huddinge, Stockholm, SwedenSearch for more papers by this author Hélio A.G. Teive MD, PhD, Corresponding Author Hélio A.G. Teive MD, PhD [email protected] Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilMovement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorRenato P. Munhoz MD, Renato P. Munhoz MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorJuliano A. Muzzio MD, Juliano A. Muzzio MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorRosana H. Scola MD, PhD, Rosana H. Scola MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorCláudia K. Kay MD, Cláudia K. Kay MD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorSalmo Raskin MD, PhD, Salmo Raskin MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorLineu C. Werneck MD, PhD, Lineu C. Werneck MD, PhD Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Pr, BrazilSearch for more papers by this authorHelene Bruhn MSc, Helene Bruhn MSc Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Huddinge, Stockholm, SwedenSearch for more papers by this author First published: 15 April 2008 https://doi.org/10.1002/mds.21990Citations: 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 References 1 Lightowlers RN,Chinnery PF,Turnbull DM,Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 1997; 13: 450–455. 2 Reichmann H. Ataxia in mitochondrial disorders. In: T Klockgether, editor. Handbook of ataxia disorders. New York: Marcel Dekker; 2000. p 325–341. 3 Chinnery PF,Howell N,Lightowlers RN,Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120: 1713–1721. 4 Calabresi PA,Silverstri G,DiMauro S,Griggs RC. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve 1994; 17: 943–945. 5 Berkovic SF,Andermann F,Shoubridge EA. Mitochondrial dysfunction in multiple symmetric lipomatosis. Ann Neurol 1991; 29: 566–569. 6 Klopstock T,Naumann M,Schalke B, et al. Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 1994; 44: 862–866. 7 Campos Y,Martin MA,Navarro C,Gordo P,Arenas J. Single large-scale mitochondrial DNA deletion in a patient with mitochondrial myopathy associated with multiple symmetric lipomatosis. Neurology 1996; 47: 1012–1014. 8 Ekbom K. Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. Acta Neurol Scand 1975; 51: 393–404. Citing Literature Volume23, Issue815 June 2008Pages 1191-1192 ReferencesRelatedInformation
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