{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:40:02Z","timestamp":1786653602560,"version":"build-2736575974"},"publisher-location":"Berlin, Heidelberg","reference-count":9,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662461891","type":"print"},{"value":"9783662461907","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014]]},"DOI":"10.1007\/8904_2014_364","type":"book-chapter","created":{"date-parts":[[2015,2,17]],"date-time":"2015-02-17T10:26:45Z","timestamp":1424168805000},"page":"59-66","source":"Crossref","is-referenced-by-count":23,"title":["Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy\/Skeletal Myopathy Phenotype With and Without Lactic Acidosis"],"prefix":"10.1007","author":[{"given":"E. J.","family":"Bhoj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ahrens-Nicklas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. C.","family":"Pyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. W.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. J.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Sondheimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ficicioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Yudkoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,2,15]]},"reference":[{"issue":"11","key":"364_CR1","doi-asserted-by":"publisher","first-page":"1288","DOI":"10.1038\/ng.246","volume":"40","author":"A Cizkova","year":"2008","unstructured":"Cizkova A, Stranecky V et al (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40(11):1288\u20131290","journal-title":"Nat Genet"},{"issue":"1\u20132","key":"364_CR2","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/S0014-5793(96)01294-X","volume":"399","author":"V Dolce","year":"1996","unstructured":"Dolce V, Fiermonte G et al (1996) Tissue-specific expression of the two isoforms of the mitochondrial phosphate carrier in bovine tissues. FEBS Lett 399(1\u20132):95\u201398","journal-title":"FEBS Lett"},{"key":"364_CR3","first-page":"2782","volume":"273","author":"G Fiermonte","year":"1998","unstructured":"Fiermonte G, Dolce V, Palmieri F et al (1998) Expression in Escherichia coli, functional characterization, and tissue distribution of isoforms A and B of the phosphate carrier from bovine mitochondria. J Biol Chem 273:2782\u20132787","journal-title":"J Biol Chem"},{"issue":"3","key":"364_CR4","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1086\/511788","volume":"80","author":"JA Mayr","year":"2007","unstructured":"Mayr JA, Merkel O et al (2007) Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 80(3):478\u2013484","journal-title":"Am J Hum Genet"},{"issue":"17","key":"364_CR5","doi-asserted-by":"publisher","first-page":"3430","DOI":"10.1093\/hmg\/ddq254","volume":"19","author":"JA Mayr","year":"2010","unstructured":"Mayr JA, Havlickova V et al (2010) Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Hum Mol Genet 19(17):3430\u20133439","journal-title":"Hum Mol Genet"},{"issue":"11","key":"364_CR6","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1016\/j.nmd.2011.06.005","volume":"21","author":"JA Mayr","year":"2011","unstructured":"Mayr JA, Zimmermann FA et al (2011) Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscul Disord 21(11):803\u2013808","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"364_CR7","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1212\/WNL.0b013e3182698d8d","volume":"79","author":"RD Pitceathly","year":"2012","unstructured":"Pitceathly RD, Murphy SM et al (2012) Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology 79(11):1145\u20131154","journal-title":"Neurology"},{"issue":"15","key":"364_CR8","doi-asserted-by":"crossref","first-page":"11240","DOI":"10.1016\/S0021-9258(19)78116-2","volume":"269","author":"R Stappen","year":"1994","unstructured":"Stappen R, Kramer R (1994) Kinetic mechanism of phosphate\/phosphate and phosphate\/OH- antiports catalyzed by reconstituted phosphate carrier from beef heart mitochondria. J Biol Chem 269(15):11240\u201311246","journal-title":"J Biol Chem"},{"issue":"3","key":"364_CR9","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/j.1399-0004.2011.01650.x","volume":"80","author":"F Tort","year":"2011","unstructured":"Tort F, Del Toro M et al (2011) Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. Clin Genet 80(3):297\u2013300","journal-title":"Clin Genet"}],"container-title":["JIMD Reports","JIMD Reports, Volume 19"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2014_364","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T22:39:20Z","timestamp":1651271960000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2014_364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"ISBN":["9783662461891","9783662461907"],"references-count":9,"URL":"https:\/\/doi.org\/10.1007\/8904_2014_364","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}