{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:52:00Z","timestamp":1761807120400},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1994,9,10]],"date-time":"1994-09-10T00:00:00Z","timestamp":779155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1995,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Recent studies have identified a group of patients with cytochrome oxidase (COX) deficiency presenting in infancy associated with a deficiency of mtDNA in muscle or other affected tissue (Moraes et al 1991). We used a novel approach to compare the level of mitochondrial (mtDNA) compared to nuclear DNA in skeletal muscle from a group of patients and controls, based on dot blots that were hybridized with a mtDNA probe labelled with<jats:sup>35<\/jats:sup>S[dCTP] and a reference nuclear DNA probe labelled with [<jats:sup>32<\/jats:sup>P]dCTP.<\/jats:p><jats:p>The ratio of mtDNA to nuclear DNA varied in samples from different muscles of the same individual. Secondly, fetal muscle had very low levels of mtDNA compared to nuclear DNA, and data from older controls (cross\u2010sectional rather than sequential) suggest that this increases rapidly over the first 3 months after birth and thereafter more slowly. Four patients with COX deficiency had levels of mtDNA that were below the age\u2010specific range defined by \u2018normal\u2019 quadriceps muscle. The clinical features of two of these patients were similar to earlier case reports of mtDNA depletion. In three patients the clinical course was relatively benign compared to cases that have previously been described.<\/jats:p><jats:p>Levels of mtDNA in skeletal muscle from some patients with other forms of muscle disease were also found to be low, suggesting that mtDNA depletion, possibly related to depletion of mitochondria, may be a relatively non\u2010specific response of muscle to various pathological processes. However, there does appear to be a distinctive group of young patients with reduced cytochrome oxidase activity in muscle, in whom marked mtDNA depletion reflects the primary defect.<\/jats:p>","DOI":"10.1007\/bf00711367","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:43:56Z","timestamp":1101804236000},"page":"4-20","source":"Crossref","is-referenced-by-count":57,"title":["Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?"],"prefix":"10.1002","volume":"18","author":[{"given":"J.","family":"Poulton","sequence":"first","affiliation":[{"name":"Department of Paediatrics University of Oxford, John Radcliffe Hospital  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Sewry","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Royal Postgraduate Medical School  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. G.","family":"Potter","sequence":"additional","affiliation":[{"name":"Nuffield Department of Medicine University of Oxford  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Bougeron","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de recherches sur les handicaps g\u00e9netiques de l'enfant INSERM U\u201012, Hopital des Enfants\u2010Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Chretien","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de recherches sur les handicaps g\u00e9netiques de l'enfant INSERM U\u201012, Hopital des Enfants\u2010Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. A.","family":"Wijburg","sequence":"additional","affiliation":[{"name":"Beatrix Kinderklinek  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. J.","family":"Morten","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Oxford, John Radcliffe Hospital  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Biochemistry University of Oxford  Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1994,9,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(91)90123-O"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500600041006"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.7.1991"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cb.07.110191.002321"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/212608a0"},{"key":"e_1_2_1_8_1","volume-title":"Muscle Biopsy: A Modern Approach","author":"Dubowitz V","year":"1973"},{"key":"e_1_2_1_9_1","first-page":"51","article-title":"Changes in volume densities and distribution of mitochondria in rat skeletal muscle after chronic hypoxia","volume":"73","author":"Ekeren G","year":"1992","journal-title":"Int J Exp Pathol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(81)90055-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90195-Q"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.12.739"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02146962"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80335-X"},{"key":"e_1_2_1_16_1","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes CT","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","first-page":"97","volume-title":"Mitochondrial DNA in Human Pathology","author":"Moraes C","year":"1993"},{"key":"e_1_2_1_18_1","first-page":"306","article-title":"Muscle mitochondrial density after exhaustive exercise in dogs: prolonged restricted activity and retraining","volume":"64","author":"Nazar K","year":"1993","journal-title":"Aviat Space Environ Med"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1500477"},{"key":"e_1_2_1_20_1","first-page":"392","article-title":"Quantification of specific mRNA by flatbed scintillation counting of dual\u2010labelled dot blots","volume":"11","author":"Potter C","year":"1993","journal-title":"Biotechniques"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91256-7"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1763"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90238-A"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(92)90059-V"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02435967"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.1.209"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000133024"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711367","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711367","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:02:54Z","timestamp":1694750574000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711367"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,9,10]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1]]}},"alternative-id":["10.1007\/BF00711367"],"URL":"https:\/\/doi.org\/10.1007\/bf00711367","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,9,10]]}}}