{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:13:01Z","timestamp":1790874781492,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,16]],"date-time":"2003-06-16T00:00:00Z","timestamp":1055721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a 9\u2010year\u2010old girl with a mitochondrial cytopathy preceded by steroid\u2010resistant focal segmental glomerulosclerosis (FSGS). The proband presented at the age of 2 years with steroid\u2010resistant nephrotic syndrome caused by FSGS. Her renal function progressively deteriorated and a dilated cardiomyopathy developed at the age of 7 years. A skeletal muscle biopsy showed a combined respiratory chain (RC) defect and a partial deficiency of coenzyme Q<jats:sub>10<\/jats:sub>. A novel mutation in the evolutionary highly conserved region of the mitochondrial <jats:italic>tRNA<jats:sup>Tyr<\/jats:sup><\/jats:italic> gene was found in homoplasmic state in skeletal muscle, blood, and renal tissue. The mutation was also found in homoplasmic state in her mildly symptomatic mother. No other maternal family members were available for testing. The present case of mitochondrial cytopathy initially presenting with steroid\u2010resistant nephrotic syndrome, unusual biochemical and renal findings associated with a novel tRNA point mutation suggests that steroid\u2010resistant FSGS can predate other features of mitochondrial disease for a prolonged period of time and that the progressive glomerulopathy associated with combined mitochondrial RC defects is genetically heterogeneous. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20315","type":"journal-article","created":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T11:22:03Z","timestamp":1067512923000},"page":"172-178","source":"Crossref","is-referenced-by-count":52,"title":["Novel homoplasmic mutation in the mitochondrial <i>tRNA<sup>Tyr<\/sup><\/i> gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis"],"prefix":"10.1002","volume":"123A","author":[{"given":"Fernando","family":"Scaglia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannes","family":"Vogel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edith P.","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgirene D.","family":"Vladutiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling\u2010Ling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee\u2010Jun C.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050902"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000190188"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1093\/clinchem\/45.8.1162","article-title":"Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis","volume":"45","author":"Chen TJ","year":"1999","journal-title":"Clin Chem"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050641"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.3.515"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3157"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80648-1"},{"key":"e_1_2_6_10_1","first-page":"548","article-title":"Pediatric dystonia due to mtDNA mutation at np 14459: Report of the fourth family","volume":"46","author":"Gropman AL","year":"1999","journal-title":"Ann Neurol"},{"key":"e_1_2_6_11_1","first-page":"548","article-title":"Rat glomerular cells do not express podocytic markers when cultured in vitro","volume":"65","author":"Holthofer H","year":"1991","journal-title":"Lab Invest"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2001.0590041236.x"},{"key":"e_1_2_6_13_1","first-page":"939","article-title":"Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees","volume":"49","author":"Howell N","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80599-2"},{"key":"e_1_2_6_15_1","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1681\/ASN.V871118","article-title":"Mutation in mitochondrial tRNALeu (UUR) gene associated with progressive kidney disease","volume":"8","author":"Janssen JJ","year":"1997","journal-title":"J Am Soc Nephrol"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10055-4"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10061-X"},{"key":"e_1_2_6_18_1","first-page":"517","article-title":"Serum and muscle tissue ubiquinone levels in healthy subjects","volume":"125","author":"Laaksonen R","year":"1995","journal-title":"J Lab Clin Med"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<395::AID-AJMG8>3.0.CO;2-M"},{"key":"e_1_2_6_20_1","first-page":"221","article-title":"Partial deficiency of cytochrome c oxidase with isolated proximal tubular acidosis and hypercalciuria","volume":"12","author":"Matsutani H","year":"1992","journal-title":"Clin Nephrol Urol"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng819"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2000.00356.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.849"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00866789"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.7.2379"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-289"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1210"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.12.2298"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.117575"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.3.443"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)02531-9"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/chromsci\/36.5.247"},{"key":"e_1_2_6_33_1","first-page":"3265","article-title":"A mitochondrial DNA mutation in the heteroplasmic tRNATyr\n                   gene associated with chronic progressive external ophthalmoplegia\u2010clinical and molecular biological study","volume":"55","author":"Sahashi K","year":"1997","journal-title":"Nippon Rinsho"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_6_35_1","first-page":"3","volume-title":"Methods in Enzymology: Oxidation and phosphorylation","author":"Srere PA","year":"1969"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.9.1905"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1994.181"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)80773-9"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/43.10.1857"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200111000-00004"},{"key":"e_1_2_6_42_1","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1093\/clinchem\/48.11.1901","article-title":"Comprehensive scanning of the entire mitochondrial genome for mutations","volume":"48","author":"Wong L\u2010JC","year":"2002","journal-title":"Clin Chem"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10062-1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:29:18Z","timestamp":1696681758000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,28]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1002\/ajmg.a.20315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20315","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,28]]}}}