| pubmed-article:16006433 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16006433 | lifeskim:mentions | umls-concept:C0205653 | lld:lifeskim |
| pubmed-article:16006433 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16006433 | lifeskim:mentions | umls-concept:C0012929 | lld:lifeskim |
| pubmed-article:16006433 | lifeskim:mentions | umls-concept:C0162671 | lld:lifeskim |
| pubmed-article:16006433 | lifeskim:mentions | umls-concept:C1533148 | lld:lifeskim |
| pubmed-article:16006433 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:16006433 | pubmed:dateCreated | 2005-8-8 | lld:pubmed |
| pubmed-article:16006433 | pubmed:abstractText | We present here a patient with muscle fatigue and poor growth since the age of 6 y. The diagnosis of a mitochondrial disease was based on the presence of ragged red fibers in the muscle biopsy and on a combined defect of mitochondrial DNA-encoded respiratory enzymes. Epilepsia partialis continua with stroke-like episodes appeared 2 mo before death at the age of 18 and prompted a search for mitochondrial DNA mutations associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Minisequencing of the patient's DNA samples revealed a heteroplasmic T3271C mutation with a 78-94% mutation load in her fibroblasts or autopsy-derived tissue samples. This is the ninth reported non-Japanese patient with T3271C mutation. Our patient shows that despite very high proportion of mutant mtDNA, the T3271C mutation can give rise to mild symptoms in childhood and to a rapid terminal phase that simulates encephalitis. | lld:pubmed |
| pubmed-article:16006433 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16006433 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16006433 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16006433 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16006433 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16006433 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:16006433 | pubmed:issn | 0031-3998 | lld:pubmed |
| pubmed-article:16006433 | pubmed:author | pubmed-author:ValanneLeenaL | lld:pubmed |
| pubmed-article:16006433 | pubmed:author | pubmed-author:PaetauAndersA | lld:pubmed |
| pubmed-article:16006433 | pubmed:author | pubmed-author:PihkoHelenaH | lld:pubmed |
| pubmed-article:16006433 | pubmed:author | pubmed-author:SuomalainenAn... | lld:pubmed |
| pubmed-article:16006433 | pubmed:author | pubmed-author:StenqvistLaur... | lld:pubmed |
| pubmed-article:16006433 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16006433 | pubmed:volume | 58 | lld:pubmed |
| pubmed-article:16006433 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16006433 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16006433 | pubmed:pagination | 258-62 | lld:pubmed |
| pubmed-article:16006433 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:meshHeading | pubmed-meshheading:16006433... | lld:pubmed |
| pubmed-article:16006433 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16006433 | pubmed:articleTitle | A juvenile case of MELAS with T3271C mitochondrial DNA mutation. | lld:pubmed |
| pubmed-article:16006433 | pubmed:affiliation | Department of Neurology, Biomedicum Helsinki, Helsinki University, FIN-00290 Helsinki, Finland. laura.stenqvist@hus.fi | lld:pubmed |
| pubmed-article:16006433 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16006433 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16006433 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:16006433 | lld:pubmed |
