Vocal cord palsy in a case of chronic progressive external ophthalmoplegia
Hematoxylin and Eosin (H&E), Modified Gomori Trichrome (MGT), Succinic dehydrogenase (SDH), Nicotinamide adenine dinucleotide tetrazolium reductase (NADHTR), Cytochrome C oxidase (COX), COX-SDH and Adenosine triphosphatase (ATPase) pH 9.4 and 4.6. {Figure 2}{Figure 3} Mendelian PEOs associated w...
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Veröffentlicht in: | Annals of the Indian Academy of Neurology 2015-10, Vol.18 (4), p.481-483 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Hematoxylin and Eosin (H&E), Modified Gomori Trichrome (MGT), Succinic dehydrogenase (SDH), Nicotinamide adenine dinucleotide tetrazolium reductase (NADHTR), Cytochrome C oxidase (COX), COX-SDH and Adenosine triphosphatase (ATPase) pH 9.4 and 4.6. {Figure 2}{Figure 3} Mendelian PEOs associated with multiple deletions of mtDNA may be caused by mutations in SLC25A4, encoding ANT1, TYMP encoding thymidine phosphorylase (autosomal recessive inheritance, CPEO, peripheral neuropathy and gastrointestinal dysmotility), POLG encoding subunit of mtDNA polymerase, C10 ORF2 encoding twinkle and OPA1 encoding a dynamin-related GTPase, causing autosomal dominant nonsyndromic optic atrophy and syndromic optic atrophy, CPEO, and deafness with variable signs. |
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ISSN: | 0972-2327 1998-3549 |
DOI: | 10.4103/0972-2327.165463 |