| pubmed-article:7556323 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C0012929 | lld:lifeskim |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C1302234 | lld:lifeskim |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C1833334 | lld:lifeskim |
| pubmed-article:7556323 | lifeskim:mentions | umls-concept:C0333668 | lld:lifeskim |
| pubmed-article:7556323 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:7556323 | pubmed:dateCreated | 1995-11-9 | lld:pubmed |
| pubmed-article:7556323 | pubmed:abstractText | We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she died at 4 months of age. A muscle biopsy showed few ragged-red fibres and lack of histochemical cytochrome c oxidase reaction in all fibres. Enzyme activities of the respiratory chain complexes containing subunits encoded by the mitochondrial DNA (mtDNA) were markedly decreased. A quantitative Southern blot analysis revealed 99% depletion of mtDNA in muscle and normal amounts in blood. There was no family history and the dizygotic twin sister of the patient was no symptomatic. CONCLUSION: This new case confirms the rapidly fatal evolution associated with severe depletion of muscle mtDNA. | lld:pubmed |
| pubmed-article:7556323 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7556323 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7556323 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:7556323 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7556323 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7556323 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:7556323 | pubmed:issn | 0340-6199 | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:CamboulivesJJ | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:PellissierJ... | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:ChabrolBB | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:GiudicelliHH | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:DesnuelleCC | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:Paquis-Fluckl... | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:SaunièresAA | lld:pubmed |
| pubmed-article:7556323 | pubmed:author | pubmed-author:MonfortM FMF | lld:pubmed |
| pubmed-article:7556323 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:7556323 | pubmed:volume | 154 | lld:pubmed |
| pubmed-article:7556323 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7556323 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7556323 | pubmed:pagination | 557-62 | lld:pubmed |
| pubmed-article:7556323 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:meshHeading | pubmed-meshheading:7556323-... | lld:pubmed |
| pubmed-article:7556323 | pubmed:year | 1995 | lld:pubmed |
| pubmed-article:7556323 | pubmed:articleTitle | Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. | lld:pubmed |
| pubmed-article:7556323 | pubmed:affiliation | Laboratorie de Neurobiologie Cellulaire, Faculté de Médecine, Nice, France. | lld:pubmed |
| pubmed-article:7556323 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7556323 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:7556323 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
