{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:17:05Z","timestamp":1759483025382,"version":"3.38.0"},"reference-count":81,"publisher":"JLE","issue":"2","license":[{"start":{"date-parts":[[2013,4,1]],"date-time":"2013-04-01T00:00:00Z","timestamp":1364774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1016\/j.nephro.2012.10.004","type":"journal-article","created":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T00:06:57Z","timestamp":1353974817000},"page":"116-124","source":"Crossref","is-referenced-by-count":6,"title":["Atteintes r\u00e9nales des cytopathies mitochondriales"],"prefix":"10.1684","volume":"9","author":[{"given":"Patrick","family":"Niaudet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"18929","reference":[{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0005","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s00415-009-5028-3","article-title":"Multisystem manifestations of mitochondrial disorders","volume":"256","author":"Di Donato","year":"2009","journal-title":"J Neurol"},{"issue":"26","key":"10.1016\/j.nephro.2012.10.004_bib0010","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N Eng J Med"},{"key":"10.1016\/j.nephro.2012.10.004_bib0015","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1146\/annurev.bi.54.070185.005055","article-title":"The mitochondrial electron transport and oxidative phosphorylation system","volume":"54","author":"Hatefi","year":"1985","journal-title":"Ann Rev Biochem"},{"issue":"5806","key":"10.1016\/j.nephro.2012.10.004_bib0020","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0025","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1086\/302392","article-title":"Repair of mtDNA in vertebrates","volume":"64","author":"Bogenhagen","year":"1999","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0030","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0378-1119(01)00813-7","article-title":"Mitochondrial DNA repair of oxidative damage in mammalian cells","volume":"286","author":"Bohr","year":"2002","journal-title":"Gene"},{"issue":"9","key":"10.1016\/j.nephro.2012.10.004_bib0035","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1007\/s004670100637","article-title":"Mitochondrial tubulopathy: the many faces of mitochondrial disorders","volume":"16","author":"Lee","year":"2001","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0040","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1203\/00006450-199110000-00007","article-title":"Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion","volume":"30","author":"Majander","year":"1991","journal-title":"Pediatr Res"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0045","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/BF00866711","article-title":"Neonatal Fanconi syndrome due to deficiency of complex\u00a0III of the respiratory chain","volume":"9","author":"Morris","year":"1995","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"10.1016\/j.nephro.2012.10.004_bib0050","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1007\/BF00865468","article-title":"Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome","volume":"8","author":"Niaudet","year":"1994","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"10.1016\/j.nephro.2012.10.004_bib0055","first-page":"364","article-title":"Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia","volume":"50","author":"Rotig","year":"1992","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0060","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0887-8994(00)00128-4","article-title":"Mitochondrial cytopathy combined with Fanconi's syndrome","volume":"22","author":"Wang","year":"2000","journal-title":"Pediatr Neurol"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0065","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/S0022-3476(88)80690-5","article-title":"de Toni-Fanconi-Debre syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency","volume":"112","author":"Ogier","year":"1988","journal-title":"J Pediatr"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0070","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1007\/BF00496424","article-title":"Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debre syndrome and a disturbed succinate: cytochrome c oxidoreductase activity","volume":"147","author":"Sperl","year":"1988","journal-title":"Eur J Pediatr"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0075","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1034\/j.1399-0004.2002.610612.x","article-title":"Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion","volume":"61","author":"Bruno","year":"2002","journal-title":"Clin Genet"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0080","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1007\/s00467-006-0288-y","article-title":"Mitochondrial DNA deletion in a girl with Fanconi's syndrome","volume":"22","author":"Au","year":"2007","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0085","doi-asserted-by":"crossref","first-page":"473","DOI":"10.3109\/01913129609016351","article-title":"Pearson's syndrome presenting with Fanconi syndrome","volume":"20","author":"Gilbert","year":"1996","journal-title":"Ultrastruct Pathol"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0090","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s004670050802","article-title":"Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency","volume":"14","author":"Kuwertz-Broking","year":"2000","journal-title":"Pediatr Nephrol"},{"issue":"9","key":"10.1016\/j.nephro.2012.10.004_bib0095","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1007\/s00467-005-1948-z","article-title":"Renal pathology in children with mitochondrial diseases","volume":"20","author":"Martin-Hernandez","year":"2005","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0100","first-page":"221","article-title":"Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria","volume":"12","author":"Matsutani","year":"1992","journal-title":"Child Nephrol Urol"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0105","first-page":"347","article-title":"Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis","volume":"46","author":"Mochizuki","year":"1996","journal-title":"Clin Nephrol"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0110","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/ng706","article-title":"A mutant mitochondrial respiratory chain assembly protein causes complex\u00a0III deficiency in patients with tubulopathy, encephalopathy and liver failure","volume":"29","author":"de Lonlay","year":"2001","journal-title":"Nat Genet"},{"issue":"1\u20132","key":"10.1016\/j.nephro.2012.10.004_bib0115","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/0009-8981(95)06238-6","article-title":"Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC\/MS","volume":"247","author":"Ning","year":"1996","journal-title":"Clin Chim Acta"},{"issue":"11","key":"10.1016\/j.nephro.2012.10.004_bib0120","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1007\/BF01957505","article-title":"Neonatal De Toni-Debre-Fanconi syndrome due to a defect in complex\u00a0III of the respiratory chain","volume":"154","author":"Wendel","year":"1995","journal-title":"Eur J Pediatr"},{"issue":"11","key":"10.1016\/j.nephro.2012.10.004_bib0125","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1212\/WNL.40.11.1761","article-title":"Kearns-Sayre syndrome presenting as renal tubular acidosis","volume":"40","author":"Eviatar","year":"1990","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0130","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0022-3476(05)80648-1","article-title":"Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome","volume":"116","author":"Goto","year":"1990","journal-title":"J Pediatr"},{"issue":"2","key":"10.1016\/j.nephro.2012.10.004_bib0135","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1081\/JDI-120038522","article-title":"Renal sodium handling study in an atypical case of Bartter's syndrome associated with mitochondriopathy and sensorineural blindness","volume":"26","author":"Menegon","year":"2004","journal-title":"Ren Fail"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0140","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1007\/s00467-005-2092-5","article-title":"\u201cBartter-like\u201d phenotype in Kearns-Sayre syndrome","volume":"21","author":"Emma","year":"2006","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"10.1016\/j.nephro.2012.10.004_bib0145","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1159\/000046239","article-title":"Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome","volume":"21","author":"Katsanos","year":"2001","journal-title":"Am J Nephrol"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0150","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00467-011-1926-6","article-title":"Renal involvement in mitochondrial cytopathies","volume":"27","author":"Emma","year":"2012","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0155","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(77)80445-9","article-title":"Familial nephrosis, nerve deafness, and hypoparathyroidism","volume":"91","author":"Barakat","year":"1977","journal-title":"J Pediatr"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0160","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s004670050641","article-title":"Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation","volume":"13","author":"Cheong","year":"1999","journal-title":"Pediatr Nephrol"},{"issue":"910","key":"10.1016\/j.nephro.2012.10.004_bib0165","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/pmj.77.910.523","article-title":"Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease","volume":"77","author":"Hameed","year":"2001","journal-title":"Postgrad Med J"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0170","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0022-3476(05)80599-2","article-title":"Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene","volume":"120","author":"Inui","year":"1992","journal-title":"J Pediatr"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0175","first-page":"347","article-title":"Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis","volume":"46","author":"Mochizuki","year":"1996","journal-title":"Clin Nephrol"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0180","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/BF00866789","article-title":"Renal involvement in mitochondrial cytopathies","volume":"10","author":"Niaudet","year":"1996","journal-title":"Pediatr Nephrol"},{"issue":"7","key":"10.1016\/j.nephro.2012.10.004_bib0185","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1136\/jmg.33.7.621","article-title":"Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation","volume":"33","author":"Yorifuji","year":"1996","journal-title":"J Med Genet"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0190","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1007\/s10024-005-0058-z","article-title":"Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes","volume":"8","author":"Gucer","year":"2005","journal-title":"Pediatr Dev Pathol"},{"issue":"15","key":"10.1016\/j.nephro.2012.10.004_bib0195","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1056\/NEJM199210083271506","article-title":"Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia","volume":"327","author":"Bilous","year":"1992","journal-title":"N Engl J Med"},{"issue":"10","key":"10.1016\/j.nephro.2012.10.004_bib0200","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1136\/adc.66.10.1191","article-title":"Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay","volume":"66","author":"Shaw","year":"1991","journal-title":"Arch Dis Child"},{"issue":"9227","key":"10.1016\/j.nephro.2012.10.004_bib0205","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0140-6736(00)02531-9","article-title":"Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10\u00a0deficiency","volume":"356","author":"Rotig","year":"2000","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0210","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1212\/01.wnl.0000172859.55579.a7","article-title":"Infantile encephalomyopathy and nephropathy with CoQ10\u00a0deficiency: a CoQ10-responsive condition","volume":"65","author":"Salviati","year":"2005","journal-title":"Neurology"},{"issue":"Pt 2","key":"10.1016\/j.nephro.2012.10.004_bib0215","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1042\/BJ20040261","article-title":"Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ","volume":"382","author":"Forsgren","year":"2004","journal-title":"Biochem J"},{"issue":"26","key":"10.1016\/j.nephro.2012.10.004_bib0220","doi-asserted-by":"crossref","first-page":"2849","DOI":"10.1056\/NEJMc0800582","article-title":"Early coenzyme Q10\u00a0supplementation in primary coenzyme Q10\u00a0deficiency","volume":"358","author":"Montini","year":"2008","journal-title":"N Engl J Med"},{"issue":"10","key":"10.1016\/j.nephro.2012.10.004_bib0225","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1681\/ASN.2006080833","article-title":"COQ2\u00a0nephropathy: a newly described inherited mitochondriopathy with primary renal involvement","volume":"18","author":"Diomedi-Camassei","year":"2007","journal-title":"J Am Soc Nephrol"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0230","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1172\/JCI29089","article-title":"Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders","volume":"117","author":"Mollet","year":"2007","journal-title":"J Clin Invest"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0235","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1086\/510023","article-title":"Leigh syndrome with nephropathy and CoQ10\u00a0deficiency due to decaprenyl diphosphate synthase subunit\u00a02 (PDSS2) mutations","volume":"79","author":"Lopez","year":"2006","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0240","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","article-title":"COQ6\u00a0mutations in human patients produce nephrotic syndrome with sensorineural deafness","volume":"121","author":"Heeringa","year":"2011","journal-title":"J Clin Invest"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0245","doi-asserted-by":"crossref","first-page":"e1000061","DOI":"10.1371\/journal.pgen.1000061","article-title":"Primary coenzyme Q deficiency in Pdss2\u00a0mutant mice causes isolated renal disease","volume":"4","author":"Peng","year":"2008","journal-title":"PLoS Genet"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0250","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1111\/j.1523-1755.2004.00702.x","article-title":"Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd\/kd mice","volume":"66","author":"Peng","year":"2004","journal-title":"Kidney Int"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0255","doi-asserted-by":"crossref","first-page":"F1535","DOI":"10.1152\/ajprenal.90445.2008","article-title":"Coenzyme Q10\u00a0supplementation rescues renal disease in Pdss2kd\/kd mice with mutations in prenyl diphosphate synthase subunit\u00a02","volume":"295","author":"Saiki","year":"2008","journal-title":"Am J Physiol Renal Physiol"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0260","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/s00467-004-1725-4","article-title":"Respiratory chain deficiency presenting as congenital nephrotic syndrome","volume":"20","author":"Goldenberg","year":"2005","journal-title":"Pediatr Nephrol"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0265","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/adc.60.5.426","article-title":"Familial juvenile nephronophthisis. Jeune's syndrome, and associated disorders","volume":"60","author":"Donaldson","year":"1985","journal-title":"Arch Dis Child"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0270","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/S0022-3476(95)70359-4","article-title":"Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis","volume":"126","author":"Rotig","year":"1995","journal-title":"J Pediatr"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0275","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1046\/j.1523-1755.2001.059003846.x","article-title":"Tubulointerstitial nephritis associated with a novel mitochondrial point mutation","volume":"59","author":"Tzen","year":"2001","journal-title":"Kidney Int"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0280","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1007\/s004390050393","article-title":"Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis","volume":"99","author":"Zsurka","year":"1997","journal-title":"Hum Genet"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0285","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1038\/ki.1994.181","article-title":"Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy","volume":"45","author":"Szabolcs","year":"1994","journal-title":"Kidney Int"},{"issue":"8","key":"10.1016\/j.nephro.2012.10.004_bib0290","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1097\/01.ASN.0000080180.51098.02","article-title":"The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation","volume":"14","author":"Gu\u00e9ry","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0295","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1046\/j.1523-1755.2001.0590041236.x","article-title":"Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation","volume":"59","author":"Hotta","year":"2001","journal-title":"Kidney Int"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0300","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1111\/j.1523-1755.2000.00356.x","article-title":"Focal segmental glomerulosclerosis associated with mitochondrial cytopathy","volume":"58","author":"Doleris","year":"2000","journal-title":"Kidney Int"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0305","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0492-11","article-title":"Maternally transmitted diabetes and deafness associated with a 10.4kb mitochondrial DNA deletion","volume":"1","author":"Ballinger","year":"1992","journal-title":"Nat Genet"},{"issue":"8849","key":"10.1016\/j.nephro.2012.10.004_bib0310","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/0140-6736(93)93101-6","article-title":"Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus","volume":"341","author":"Kadowaki","year":"1993","journal-title":"Lancet"},{"issue":"8832","key":"10.1016\/j.nephro.2012.10.004_bib0315","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1016\/0140-6736(92)92560-3","article-title":"Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA","volume":"340","author":"Reardon","year":"1992","journal-title":"Lancet"},{"issue":"19","key":"10.1016\/j.nephro.2012.10.004_bib0320","doi-asserted-by":"crossref","first-page":"8731","DOI":"10.1073\/pnas.91.19.8731","article-title":"The development of mitochondrial medicine","volume":"91","author":"Luft","year":"1994","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0325","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ng0892-368","article-title":"Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness","volume":"1","author":"van den Ouweland","year":"1992","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0330","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<404::AID-AJMG14>3.0.CO;2-S","article-title":"The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243\u00a0of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy","volume":"62","author":"Feigenbaum","year":"1996","journal-title":"Am J Med Genet"},{"issue":"14","key":"10.1016\/j.nephro.2012.10.004_bib0335","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1056\/NEJM199404073301403","article-title":"A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA","volume":"330","author":"Kadowaki","year":"1994","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0340","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1172\/JCI116267","article-title":"Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)","volume":"91","author":"Rotig","year":"1993","journal-title":"J Clin Invest"},{"issue":"9\u00a0Pt 1","key":"10.1016\/j.nephro.2012.10.004_bib0345","doi-asserted-by":"crossref","first-page":"721","DOI":"10.7326\/0003-4819-134-9_Part_1-200105010-00008","article-title":"Maternally inherited diabetes and deafness: a multicenter study","volume":"134","author":"Guillausseau","year":"2001","journal-title":"Ann Intern Med"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0350","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1007\/s100380170068","article-title":"Prevalence of A-to-G mutation at nucleotide 3243\u00a0of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease","volume":"46","author":"Iwasaki","year":"2001","journal-title":"J Hum Genet"},{"issue":"1","key":"10.1016\/j.nephro.2012.10.004_bib0355","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0009-8981(94)90055-8","article-title":"Biochemical and molecular investigations in respiratory chain deficiencies","volume":"228","author":"Rustin","year":"1994","journal-title":"Clin Chim Acta"},{"issue":"12","key":"10.1016\/j.nephro.2012.10.004_bib0360","doi-asserted-by":"crossref","first-page":"2995","DOI":"10.1097\/01.ASN.0000095481.24091.C9","article-title":"Genetic features of mitochondrial respiratory chain disorders","volume":"14","author":"Rotig","year":"2003","journal-title":"J Am Soc Nephrol"},{"issue":"6302","key":"10.1016\/j.nephro.2012.10.004_bib0365","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.nephro.2012.10.004_bib0370","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1159\/000013406","article-title":"A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation","volume":"18","author":"Kurogouchi","year":"1998","journal-title":"Am J Nephrol"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0375","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1111\/j.1600-0404.1995.tb00156.x","article-title":"Clinical spectrum of the MELAS mutation in a large pedigree","volume":"92","author":"Damian","year":"1995","journal-title":"Acta Neurol Scand"},{"issue":"5","key":"10.1016\/j.nephro.2012.10.004_bib0380","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1681\/ASN.V75647","article-title":"Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy","volume":"7","author":"Hsieh","year":"1996","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"10.1016\/j.nephro.2012.10.004_bib0385","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1136\/jmg.32.8.654","article-title":"Point mutation of the mitochondrial tRNA(Leu) gene (A 3243\u00a0G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness","volume":"32","author":"Manouvrier","year":"1995","journal-title":"J Med Genet"},{"issue":"12","key":"10.1016\/j.nephro.2012.10.004_bib0390","doi-asserted-by":"crossref","first-page":"4465","DOI":"10.1093\/nar\/17.12.4465","article-title":"Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms","volume":"17","author":"Holt","year":"1989","journal-title":"Nucl Ac Res"},{"issue":"4","key":"10.1016\/j.nephro.2012.10.004_bib0395","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/humu.9135","article-title":"Mutation analysis in 16\u00a0patients with mtDNA depletion","volume":"21","author":"Carrozzo","year":"2003","journal-title":"Hum Mutat"},{"issue":"3","key":"10.1016\/j.nephro.2012.10.004_bib0400","first-page":"492","article-title":"mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases","volume":"48","author":"Moraes","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.1016\/j.nephro.2012.10.004_bib0405","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/9.8.1245","article-title":"A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency","volume":"9","author":"Valnot","year":"2000","journal-title":"Hum Mol Genet"}],"container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725512005421?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725512005421?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.jle.com\/10.1016\/j.nephro.2012.10.004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T14:35:51Z","timestamp":1741185351000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769725512005421"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":81,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["S1769725512005421"],"URL":"https:\/\/doi.org\/10.1016\/j.nephro.2012.10.004","relation":{},"ISSN":["1769-7255"],"issn-type":[{"type":"print","value":"1769-7255"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}