{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:17:48Z","timestamp":1777000668166,"version":"3.51.4"},"publisher-location":"Berlin, Heidelberg","reference-count":20,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783662558324","type":"print"},{"value":"9783662558331","type":"electronic"}],"license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016]]},"DOI":"10.1007\/8904_2016_23","type":"book-chapter","created":{"date-parts":[[2016,12,7]],"date-time":"2016-12-07T10:16:45Z","timestamp":1481105805000},"page":"39-45","source":"Crossref","is-referenced-by-count":21,"title":["Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?"],"prefix":"10.1007","author":[{"given":"Sema Kalkan","family":"Ucar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes A.","family":"Mayr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9 G.","family":"Feichtinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebru","family":"Canda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmut","family":"\u00c7oker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia B.","family":"Wortmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,12,8]]},"reference":[{"issue":"15","key":"23_CR1","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2016.03.020","volume":"62","author":"A Al Teneiji","year":"2016","unstructured":"Al Teneiji A, Siriwardena K, George K, Mital S, Mercimek-Mahmutoglu S (2016) Progressive cerebellar atrophy and a novel homozygous pathogenic DNAJC19 variant as a cause of dilated cardiomyopathy ataxia syndrome. Pediatr Neurol 62(15):58\u201361","journal-title":"Pediatr Neurol"},{"key":"23_CR2","doi-asserted-by":"crossref","unstructured":"Ammar M, Tabebi M, Sfaihi L et al (2016) Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene. Biochem Biophys Res Commun 474(4):702\u2013708","DOI":"10.1016\/j.bbrc.2016.05.014"},{"key":"23_CR3","doi-asserted-by":"crossref","unstructured":"Baertling F, Klee D, Haack TB et al (2016) The many faces of paediatric mitochondrial disease on neuroimaging. Childs Nerv Syst. PMID: 27449766","DOI":"10.1007\/s00381-016-3190-3"},{"key":"23_CR21","first-page":"1","volume":"7","author":"MD Benson","year":"2016","unstructured":"Benson MD, Ferreira P, MacDonald IM (2016) Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: a case report. Ophthalmic Genet 7:1\u20133","journal-title":"Ophthalmic Genet"},{"issue":"3","key":"23_CR4","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00401-002-0638-1","volume":"105","author":"A Berger","year":"2003","unstructured":"Berger A, Mayr JA, Meierhofer D et al (2003) Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 105(3):245\u2013251","journal-title":"Acta Neuropathol"},{"issue":"5","key":"23_CR5","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jmg.2005.036657","volume":"43","author":"KM Davey","year":"2006","unstructured":"Davey KM, Parboosingh JS, McLeod DR et al (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 43(5):385\u2013393","journal-title":"J Med Genet"},{"issue":"4","key":"23_CR6","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/glia.22621","volume":"62","author":"RG Feichtinger","year":"2014","unstructured":"Feichtinger RG, Weis S, Mayr JA et al (2014) Alterations of oxidative phosphorylation complexes in astrocytomas. Glia 62(4):514\u2013525","journal-title":"Glia"},{"issue":"6","key":"23_CR7","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1203\/01.pdr.0000127016.67809.6b","volume":"55","author":"JA Mayr","year":"2004","unstructured":"Mayr JA, Paul J, Pecina P et al (2004) Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatr Res 55(6):988\u2013994","journal-title":"Pediatr Res"},{"issue":"6","key":"23_CR8","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/carcin\/bgh104","volume":"25","author":"D Meierhofer","year":"2004","unstructured":"Meierhofer D, Mayr JA, Foetschl U et al (2004) Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis 25(6):1005\u20131010","journal-title":"Carcinogenesis"},{"key":"23_CR9","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/adc.81.3.209","volume":"81","author":"A Nissenkonr","year":"1999","unstructured":"Nissenkonr A, Zeharia A, Lev D et al (1999) Multiple presentation of mitochondrial disorders. Arch Dis Child 81:209\u2013214","journal-title":"Arch Dis Child"},{"issue":"4","key":"23_CR10","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/pr.2012.92","volume":"72","author":"T Ojala","year":"2012","unstructured":"Ojala T, Polinati P, Manninen T et al (2012) New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res 72(4):432\u2013437","journal-title":"Pediatr Res"},{"key":"23_CR23","doi-asserted-by":"crossref","unstructured":"Relethford JH (2012) Inbreeding. In: Relethford JH (ed) Human population genetics, 1st edn. Wiley-Blackwell, pp 49\u201376","DOI":"10.1002\/9781118181652.ch3"},{"issue":"1","key":"23_CR11","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.cmet.2014.04.016","volume":"20","author":"R Richter-Dennerlein","year":"2014","unstructured":"Richter-Dennerlein R, Korwitz A, Haag M et al (2014) DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab 20(1):158\u2013171","journal-title":"Cell Metab"},{"key":"23_CR12","doi-asserted-by":"crossref","first-page":"37327","DOI":"10.1074\/jbc.M105313200","volume":"276","author":"U Rothbauer","year":"2001","unstructured":"Rothbauer U, Hofmann S, Muhlenbein N et al (2001) Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. J Biol Chem 276:37327\u201337334","journal-title":"J Biol Chem"},{"issue":"1","key":"23_CR24","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","volume":"228","author":"P Rustin","year":"1994","unstructured":"Rustin P, Chretien D, Bourgeron T et al (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228(1):35\u201351","journal-title":"Clin Chim Acta"},{"issue":"2","key":"23_CR13","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1017\/S1047951107000042","volume":"17","author":"R Sparkes","year":"2007","unstructured":"Sparkes R, Patton D, Bernier F (2007) Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young 17(2):215\u2013217","journal-title":"Cardiol Young"},{"key":"23_CR14","unstructured":"Thiels C, Fleger M, Huemer M et al (2016) Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation? JIMD Rep. PMID:26724946"},{"key":"23_CR15","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.32.4.257","volume":"32","author":"L Tranebjaerg","year":"1995","unstructured":"Tranebjaerg L, Schwartz C, Eriksen H et al (1995) A new X- linked recessive deafnesssyndrome with blindness, dystonia, fracture, and mental deficiency is linked to Xq22. J Med Genet 32:257\u2013263","journal-title":"J Med Genet"},{"key":"23_CR16","doi-asserted-by":"crossref","unstructured":"Wortmann SB, Vaz FM, Gardeitchik T et al (2012) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44(7):797\u2013802","DOI":"10.1038\/ng.2325"},{"issue":"6","key":"23_CR17","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s10545-012-9580-0","volume":"36","author":"SB Wortmann","year":"2013","unstructured":"Wortmann SB, Duran M, Anikster Y et al (2013) Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis 36(6):923\u2013928","journal-title":"J Inherit Metab Dis"}],"container-title":["JIMD Reports","JIMD Reports, Volume 35"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2016_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T20:00:47Z","timestamp":1601236847000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2016_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"ISBN":["9783662558324","9783662558331"],"references-count":20,"URL":"https:\/\/doi.org\/10.1007\/8904_2016_23","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}