Progressive myopathy with a combined respiratory chain defect including Complex II

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dc.contributor.author Rodrigues, Andresa De Santi [UNIFESP]
dc.contributor.author Kiyomoto, Beatriz Hitomi [UNIFESP]
dc.contributor.author Oliveira, Acary Souza Bulle [UNIFESP]
dc.contributor.author Gabbai, Alberto Alain [UNIFESP]
dc.contributor.author Schmidt, Beny [UNIFESP]
dc.contributor.author Tengan, Celia Harumi [UNIFESP]
dc.date.accessioned 2016-01-24T13:49:29Z
dc.date.available 2016-01-24T13:49:29Z
dc.date.issued 2008-01-15
dc.identifier http://dx.doi.org/10.1016/j.jns.2007.08.002
dc.identifier.citation Journal of the Neurological Sciences. Amsterdam: Elsevier B.V., v. 264, n. 1-2, p. 182-186, 2008.
dc.identifier.issn 0022-510X
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/30376
dc.description.abstract Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported very rarely and have muscular symptoms as the main manifestation, including muscle weakness, exercise intolerance and myoglobinuria. We report a patient with a fatal progressive myopathy and muscle biopsy showing diffuse reduction in succinate dehydrogenase activity, ragged red fibers and intense lipid accumulation. Cytochrome c oxidase (COX) histochemistry demonstrated 30% of fibers with increased subsarcolemmal staining while 27% were COX negative. Western blotting analysis showed reduction in the expression of the 39 kDa subunit of Complex I, subunit II of Complex IV and the 70 kDa subunit of Complex II. Our findings suggest that the patient had a complex pattern of mitochondrial dysfunction affecting multiple respiratory chain complexes (I, II and IV) and fatty acid metabolism. This report adds a new histological pattern associated to combined deficiencies of respiratory chain with involvement of Complex II and shows that this disease may be fatal with a rapid progression. (c) 2007 Elsevier B.V. All rights reserved. en
dc.format.extent 182-186
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Journal of the Neurological Sciences
dc.rights Acesso restrito
dc.subject mitochondria en
dc.subject succinate dehydrogenase en
dc.subject mitochondrial myopathies en
dc.subject respiratory chain en
dc.subject lipid metabolism en
dc.subject muscle en
dc.subject myopathies en
dc.title Progressive myopathy with a combined respiratory chain defect including Complex II en
dc.type Artigo
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Clin Neurol Div,Lab Neurol Mol, Dept Neurol & Neurosurg, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Clin Neurol Div,Lab Neurol Mol, Dept Neurol & Neurosurg, BR-04039032 São Paulo, SP, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Escola Paulista Med, Dept Pathol, BR-04039032 São Paulo, SP, Brazil
dc.identifier.doi 10.1016/j.jns.2007.08.002
dc.description.source Web of Science
dc.identifier.wos WOS:000252686200033



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