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Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency.
Sonam, Kothari; Bindu, Parayil Sankaran; Taly, Arun B; Nalini, Atchayaram; Govindaraju, Chikkanna; Aravinda, Hanumanthapura R; Khan, Nahid Akthar; Thangaraj, Kumaraswamy; Gayathri, Narayanappa.
Afiliação
  • Sonam K; Departments of *Neurology, and †Neuroimaging & Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; ‡Department of Evolutionary and Medical Genetics, Centre for Cellular and Molecular Biology, Hyderabad, India; and §Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
J Clin Neuromuscul Dis ; 16(2): 69-73, 2014 Dec.
Article em En | MEDLINE | ID: mdl-25415517
Mitochondrial disorders resulting from an isolated deficiency of complex II of the respiratory chain is rarely reported. The phenotypic spectrum associated with these disorders is heterogeneous and still expanding. This report describes a patient who presented with myopathy, dilated cardiomyopathy, and pontine signal changes on magnetic resonance imaging. Muscle biopsy showed total absence of succinate dehydrogenase on enzyme histochemistry, negative succinate dehydrogenase subunit A (SDHA) activity on immunohistochemistry, and ultrastructural evidence of mitochondrial aggregates of varying sizes confirming the diagnosis of complex II deficiency. A unique phenotype with complex II deficiency is reported.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Ponte / Miopatias Mitocondriais / Complexo II de Transporte de Elétrons / Cardiomiopatias Limite: Adult / Female / Humans Idioma: En Revista: J Clin Neuromuscul Dis Ano de publicação: 2014 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Ponte / Miopatias Mitocondriais / Complexo II de Transporte de Elétrons / Cardiomiopatias Limite: Adult / Female / Humans Idioma: En Revista: J Clin Neuromuscul Dis Ano de publicação: 2014 Tipo de documento: Article