Mitochondrial genome analysis in Kearns-Sayre syndrome.

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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Main Authors: P. Lertrit, L. Atchaneeyasakul, V. Devahastin, V. Saechan, T. Sangruchi, N. Neungton, S. Lekhakula
Other Authors: Mahidol University
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/17383
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spelling 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
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Medicine
spellingShingle Medicine
P. Lertrit
L. Atchaneeyasakul
V. Devahastin
V. Saechan
T. Sangruchi
N. Neungton
S. Lekhakula
Mitochondrial genome analysis in Kearns-Sayre syndrome.
description 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.
author2 Mahidol University
author_facet 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
url https://repository.li.mahidol.ac.th/handle/123456789/17383
_version_ 1763491957123842048

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