| pubmed-article:20546952 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20546952 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:20546952 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20546952 | lifeskim:mentions | umls-concept:C0023264 | lld:lifeskim |
| pubmed-article:20546952 | lifeskim:mentions | umls-concept:C1537983 | lld:lifeskim |
| pubmed-article:20546952 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:20546952 | pubmed:dateCreated | 2010-8-9 | lld:pubmed |
| pubmed-article:20546952 | pubmed:abstractText | The most common mitochondrial DNA (mtDNA) mutations giving rise to Leigh syndrome reside in the MTATP6 gene. We report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery. Disease progression corresponded to febrile viral illness and nuclear magnetic resonance imaging (MRI) changes. The patient displayed nearly 100% homoplasmy, while his asymptomatic mother was 30%. Phenotypically, exacerbations of muscle weakness with endurance intolerance, dysarthric speech, ataxia, and eyelid ptosis accompanied febrile viral illness. This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes. | lld:pubmed |
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| pubmed-article:20546952 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20546952 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20546952 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20546952 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20546952 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20546952 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20546952 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:20546952 | pubmed:issn | 1872-8278 | lld:pubmed |
| pubmed-article:20546952 | pubmed:author | pubmed-author:SinghKeshav... | lld:pubmed |
| pubmed-article:20546952 | pubmed:author | pubmed-author:SanetoRussell... | lld:pubmed |
| pubmed-article:20546952 | pubmed:copyrightInfo | (c) 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved. | lld:pubmed |
| pubmed-article:20546952 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20546952 | pubmed:volume | 10 | lld:pubmed |
| pubmed-article:20546952 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20546952 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20546952 | pubmed:pagination | 567-72 | lld:pubmed |
| pubmed-article:20546952 | pubmed:dateRevised | 2011-9-26 | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:meshHeading | pubmed-meshheading:20546952... | lld:pubmed |
| pubmed-article:20546952 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20546952 | pubmed:articleTitle | Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. | lld:pubmed |
| pubmed-article:20546952 | pubmed:affiliation | Division of Pediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, WA 98105, USA. russ.saneto@seattlechildrens.org | lld:pubmed |
| pubmed-article:20546952 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20546952 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:20546952 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:20546952 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:4508 | entrezgene:pubmed | pubmed-article:20546952 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20546952 | lld:entrezgene |
