{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T21:49:35Z","timestamp":1773956975485,"version":"3.50.1"},"publisher-location":"Berlin, Heidelberg","reference-count":29,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662586136","type":"print"},{"value":"9783662586143","type":"electronic"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/8904_2018_93","type":"book-chapter","created":{"date-parts":[[2018,4,13]],"date-time":"2018-04-13T04:17:28Z","timestamp":1523593048000},"page":"27-35","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation"],"prefix":"10.1007","author":[{"given":"Anja","family":"von Renesse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Morales-Gonzalez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Gill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gajja S.","family":"Salomons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Werner","family":"Stenzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Schuelke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,4,14]]},"reference":[{"key":"93_CR1","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.nmd.2004.12.004","volume":"15","author":"M Deschauer","year":"2005","unstructured":"Deschauer M, Hudson G, M\u00fcller T et al (2005) A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord 15:311\u2013315. https:\/\/doi.org\/10.1016\/j.nmd.2004.12.004","journal-title":"Neuromuscul Disord"},{"key":"93_CR2","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1016\/j.febslet.2004.12.034","volume":"579","author":"V Dolce","year":"2005","unstructured":"Dolce V, Scarcia P, Iacopetta D, Palmieri F (2005) A fourth ADP\/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution. FEBS Lett 579:633\u2013637. https:\/\/doi.org\/10.1016\/j.febslet.2004.12.034","journal-title":"FEBS Lett"},{"key":"93_CR3","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1136\/jmedgenet-2011-100504","volume":"49","author":"A Echaniz-Laguna","year":"2012","unstructured":"Echaniz-Laguna A, Chassagne M, Ceresuela J et al (2012) Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet 49:146\u2013150. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100504","journal-title":"J Med Genet"},{"key":"93_CR4","doi-asserted-by":"publisher","first-page":"4820","DOI":"10.1073\/pnas.96.9.4820","volume":"96","author":"LA Esposito","year":"1999","unstructured":"Esposito LA, Melov S, Panov A et al (1999) Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A 96:4820\u20134825","journal-title":"Proc Natl Acad Sci U S A"},{"key":"93_CR5","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1038\/ng0797-226","volume":"16","author":"BH Graham","year":"1997","unstructured":"Graham BH, Waymire KG, Cottrell B et al (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart\/muscle isoform of the adenine nucleotide translocator. Nat Genet 16:226\u2013234. https:\/\/doi.org\/10.1038\/ng0797-226","journal-title":"Nat Genet"},{"key":"93_CR6","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1002\/ajmg.a.32054","volume":"143A","author":"AW James","year":"2007","unstructured":"James AW, Miranda SG, Culver K et al (2007) DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A 143A:2821\u20132831. https:\/\/doi.org\/10.1002\/ajmg.a.32054","journal-title":"Am J Med Genet A"},{"key":"93_CR7","doi-asserted-by":"crossref","first-page":"16872","DOI":"10.1016\/S0021-9258(18)37472-6","volume":"263","author":"EE Kaufman","year":"1988","unstructured":"Kaufman EE, Nelson T, Fales HM, Levin DM (1988a) Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria. J Biol Chem 263:16872\u201316879","journal-title":"J Biol Chem"},{"key":"93_CR8","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1111\/j.1471-4159.1988.tb03071.x","volume":"51","author":"EE Kaufman","year":"1988","unstructured":"Kaufman EE, Nelson T, Miller D, Stadlan N (1988b) Oxidation of \u03b3-Hydroxybutyrate to succinic semialdehyde by a mitochondrial pyridine nucleotide-independent enzyme. J Neurochem 51:1079\u20131084. https:\/\/doi.org\/10.1111\/j.1471-4159.1988.tb03071.x","journal-title":"J Neurochem"},{"key":"93_CR9","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1126\/science.289.5480.782","volume":"289","author":"J Kaukonen","year":"2000","unstructured":"Kaukonen J, Juselius JK, Tiranti V et al (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289:782\u2013785. https:\/\/doi.org\/10.1126\/science.289.5480.782","journal-title":"Science"},{"key":"93_CR10","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1002\/ana.10172","volume":"51","author":"H Komaki","year":"2002","unstructured":"Komaki H, Fukazawa T, Houzen H et al (2002) A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann Neurol 51:645\u2013648. https:\/\/doi.org\/10.1002\/ana.10172","journal-title":"Ann Neurol"},{"key":"93_CR11","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1007\/8904_2015_409","volume":"22","author":"IMLW K\u00f6rver-Keularts","year":"2015","unstructured":"K\u00f6rver-Keularts IMLW, de Visser M, Bakker HD et al (2015) Two novel mutations in the SLC25A4 gene in a patient with mitochondrial myopathy. JIMD Rep 22:39\u201345. https:\/\/doi.org\/10.1007\/8904_2015_409","journal-title":"JIMD Rep"},{"key":"93_CR12","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1007\/s10545-009-1282-x","volume":"32","author":"M Kranendijk","year":"2009","unstructured":"Kranendijk M, Salomons GS, Gibson KM et al (2009) Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria. J Inherit Metab Dis 32:713. https:\/\/doi.org\/10.1007\/s10545-009-1282-x","journal-title":"J Inherit Metab Dis"},{"key":"93_CR13","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"key":"93_CR14","doi-asserted-by":"publisher","first-page":"1985","DOI":"10.1091\/mbc.E15-01-0030","volume":"26","author":"Y Liu","year":"2015","unstructured":"Liu Y, Wang X, Chen XJ (2015) Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases. Mol Biol Cell 26:1985\u20131994. https:\/\/doi.org\/10.1091\/mbc.E15-01-0030","journal-title":"Mol Biol Cell"},{"key":"93_CR15","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1016\/j.stem.2016.12.013","volume":"20","author":"C Lorenz","year":"2017","unstructured":"Lorenz C, Lesimple P, Bukowiecki R et al (2017) Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders. Cell Stem Cell 20:659\u2013674.e9. https:\/\/doi.org\/10.1016\/j.stem.2016.12.013","journal-title":"Cell Stem Cell"},{"key":"93_CR16","doi-asserted-by":"publisher","first-page":"2295","DOI":"10.1212\/WNL.57.12.2295","volume":"57","author":"L Napoli","year":"2001","unstructured":"Napoli L, Bordoni A, Zeviani M et al (2001) A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 57:2295\u20132298","journal-title":"Neurology"},{"key":"93_CR17","doi-asserted-by":"publisher","first-page":"3079","DOI":"10.1093\/hmg\/ddi341","volume":"14","author":"L Palmieri","year":"2005","unstructured":"Palmieri L, Alberio S, Pisano I et al (2005) Complete loss-of-function of the heart\/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14:3079\u20133088. https:\/\/doi.org\/10.1093\/hmg\/ddi341","journal-title":"Hum Mol Genet"},{"key":"93_CR18","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013423. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"93_CR19","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1007\/s10545-007-0487-0","volume":"30","author":"R Rzem","year":"2007","unstructured":"Rzem R, Vincent M-F, Schaftingen EV, Veiga-da-Cunha M (2007) L-2-hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 30:681. https:\/\/doi.org\/10.1007\/s10545-007-0487-0","journal-title":"J Inherit Metab Dis"},{"key":"93_CR20","doi-asserted-by":"publisher","first-page":"W516","DOI":"10.1093\/nar\/gks487","volume":"40","author":"D Seelow","year":"2012","unstructured":"Seelow D, Schuelke M (2012) HomozygosityMapper2012 \u2013 bridging the gap between homozygosity mapping and deep sequencing. Nucleic Acids Res 40:W516\u2013W520. https:\/\/doi.org\/10.1093\/nar\/gks487","journal-title":"Nucleic Acids Res"},{"key":"93_CR21","doi-asserted-by":"crossref","first-page":"14592","DOI":"10.1016\/S0021-9258(18)42082-0","volume":"267","author":"G Stepien","year":"1992","unstructured":"Stepien G, Torroni A, Chung AB et al (1992) Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J Biol Chem 267:14592\u201314597","journal-title":"J Biol Chem"},{"key":"93_CR22","doi-asserted-by":"publisher","first-page":"3453","DOI":"10.1073\/pnas.1300690110","volume":"110","author":"KA Strauss","year":"2013","unstructured":"Strauss KA, DuBiner L, Simon M et al (2013) Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci 110:3453\u20133458. https:\/\/doi.org\/10.1073\/pnas.1300690110","journal-title":"Proc Natl Acad Sci"},{"key":"93_CR23","doi-asserted-by":"publisher","first-page":"1391","DOI":"10.1373\/clinchem.2004.033399","volume":"50","author":"EA Struys","year":"2004","unstructured":"Struys EA, Jansen EEW, Verhoeven NM, Jakobs C (2004) Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography\u2013tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride. Clin Chem 50:1391\u20131395. https:\/\/doi.org\/10.1373\/clinchem.2004.033399","journal-title":"Clin Chem"},{"key":"93_CR24","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1007\/s10545-005-0114-x","volume":"28","author":"EA Struys","year":"2005","unstructured":"Struys EA, Verhoeven NM, Brink HJT et al (2005) Kinetic characterization of human hydroxyacid\u2013oxoacid transhydrogenase: relevance toD-2-hydroxyglutaric and \u03b3-hydroxybutyric acidurias. J Inherit Metab Dis 28:921\u2013930. https:\/\/doi.org\/10.1007\/s10545-005-0114-x","journal-title":"J Inherit Metab Dis"},{"key":"93_CR25","doi-asserted-by":"publisher","first-page":"1471","DOI":"10.1091\/mbc.11.4.1471","volume":"11","author":"Y Tang","year":"2000","unstructured":"Tang Y, Schon EA, Wilichowski E et al (2000) Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell 11:1471\u20131485. https:\/\/doi.org\/10.1091\/mbc.11.4.1471","journal-title":"Mol Biol Cell"},{"key":"93_CR26","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"The 1000 Genomes Project Consortium","year":"2015","unstructured":"The 1000 Genomes Project Consortium (2015) A global reference for human genetic variation. Nature 526:68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"key":"93_CR27","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1016\/j.ajhg.2016.08.014","volume":"99","author":"K Thompson","year":"2016","unstructured":"Thompson K, Majd H, Dallabona C et al (2016) Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am J Hum Genet 99:860\u2013876. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.014","journal-title":"Am J Hum Genet"},{"key":"93_CR28","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1136\/jmedgenet-2013-102236","volume":"51","author":"A Renesse von","year":"2014","unstructured":"von Renesse A, Petkova MV, L\u00fctzkendorf S et al (2014) POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. J Med Genet 51:275\u2013282. https:\/\/doi.org\/10.1136\/jmedgenet-2013-102236","journal-title":"J Med Genet"},{"key":"93_CR29","doi-asserted-by":"publisher","first-page":"W58","DOI":"10.1093\/nar\/gkw233","volume":"44","author":"H Weissensteiner","year":"2016","unstructured":"Weissensteiner H, Pacher D, Kloss-Brandst\u00e4tter A et al (2016) HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing. Nucleic Acids Res 44:W58\u2013W63. https:\/\/doi.org\/10.1093\/nar\/gkw233","journal-title":"Nucleic Acids Res"}],"container-title":["JIMD Reports","JIMD Reports, Volume 43"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2018_93","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T12:29:58Z","timestamp":1660912198000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2018_93"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783662586136","9783662586143"],"references-count":29,"URL":"https:\/\/doi.org\/10.1007\/8904_2018_93","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}