Detalhes bibliográficos
| Resumo: | OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS. |
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| Autores principais: | Lorenzoni,Paulo José |
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| Outros Autores: | Scola,Rosana H.; Kay,Cláudia S. Kamoi; Arndt,Raquel C.; Freund,Aline A.; Bruck,Isac; Santos,Mara Lúcia S.F.; Werneck,Lineu C. |
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| Assunto: | MELAS mitochondrial myopathies biopsy mitochondrial DNA genetics |
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| Ano: | 2009 |
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| País: | Brasil |
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| Tipo de documento: | artigo |
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| Tipo de acesso: | acesso aberto |
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| Instituição associada: | IBICT |
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| Idioma: | inglês |
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| Origem: | Oasisbr |
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