Mitochondrial genome analysis in Kearns-Sayre syndrome.
We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fi...
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th-mahidol.173832018-07-04T13:56:37Z Mitochondrial genome analysis in Kearns-Sayre syndrome. P. Lertrit L. Atchaneeyasakul V. Devahastin V. Saechan T. Sangruchi N. Neungton S. Lekhakula Mahidol University Medicine We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fibers showed an increase in red-staining material in the intermyofibrillary network and the subsarcolemmal region. On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. Analysis of mitochondrial DNA (mtDNA) from the patient and her mother showed no deleted mtDNA. 2018-07-04T06:56:37Z 2018-07-04T06:56:37Z 1995-12-01 Article The Southeast Asian journal of tropical medicine and public health. Vol.26 Suppl 1, (1995), 162-165 01251562 2-s2.0-0029449870 https://repository.li.mahidol.ac.th/handle/123456789/17383 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0029449870&origin=inward |
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Medicine P. Lertrit L. Atchaneeyasakul V. Devahastin V. Saechan T. Sangruchi N. Neungton S. Lekhakula Mitochondrial genome analysis in Kearns-Sayre syndrome. |
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We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fibers showed an increase in red-staining material in the intermyofibrillary network and the subsarcolemmal region. On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. Analysis of mitochondrial DNA (mtDNA) from the patient and her mother showed no deleted mtDNA. |
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Mahidol University |
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Mahidol University P. Lertrit L. Atchaneeyasakul V. Devahastin V. Saechan T. Sangruchi N. Neungton S. Lekhakula |
format |
Article |
author |
P. Lertrit L. Atchaneeyasakul V. Devahastin V. Saechan T. Sangruchi N. Neungton S. Lekhakula |
author_sort |
P. Lertrit |
title |
Mitochondrial genome analysis in Kearns-Sayre syndrome. |
title_short |
Mitochondrial genome analysis in Kearns-Sayre syndrome. |
title_full |
Mitochondrial genome analysis in Kearns-Sayre syndrome. |
title_fullStr |
Mitochondrial genome analysis in Kearns-Sayre syndrome. |
title_full_unstemmed |
Mitochondrial genome analysis in Kearns-Sayre syndrome. |
title_sort |
mitochondrial genome analysis in kearns-sayre syndrome. |
publishDate |
2018 |
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https://repository.li.mahidol.ac.th/handle/123456789/17383 |
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1763491957123842048 |