Clinical features, muscle biopsy and molecular genetics
نویسندگان
چکیده
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 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 gene should not be the only diagnostic criteria for MELAS.
منابع مشابه
Muscle Biopsy
Muscle biopsy has been used for a long time for diagnosis of muscular, nerurogenic and systemic disorders with muscle involvement, because only very few of these disorders show sufficient specific clinical features for definite diagnosis. Since the presence of difficulties in the screening of numerous genes, muscle biopsy could be a time and cost effective procedure for solving the diagnostic p...
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