574:
993:
Houshmand M, Larsson NG, Oldfors A, Tulinius M, Holme E (March 1996). "Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A → G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne".
1141:
Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M (May 2003). "A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome".
733:
We sequenced the mtDNA in the 11 probands, in their mothers and in 80 controls. We identified 33 diabetes-suspected mutations, 1/33 was 3243A>G. Most patients (91%) and their mothers had mutations in complex I and/or IV of the respiratory
782:
van den Bosch BJ, de Coo IF, Hendrickx AT, Busch HF, de Jong G, Scholte HR, Smeets HJ (October 2004). "Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene".
384:
Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome".
746:
Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H, Ohsawa N (April 1998). "Novel mitochondrial DNA mutation in tRNA(Lys) (8296A→G) associated with diabetes".
221:
1031:
Suzuki Y, Nishimaki K, Taniyama M, Muramatsu T, Atsumi Y, Matsuoka K, Ohta S (March 2004). "Lipoma and opthalmoplegia in mitochondrial diabetes associated with small heteroplasmy level of 3243 tRNA(Leu(UUR)) mutation".
963:
Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR (January 1997). "Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin".
524:"Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes"
640:
Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC (December 1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA".
475:
Bulduk BK, Kiliç HB, Bekircan-Kurt CE, Haliloğlu G, Erdem Özdamar S, Topaloğlu H, Kocaefe YÇ (March 2020). "A Novel
Amplification-Refractory Mutation System-PCR Strategy to Screen
1104:
Iwanaga R, Koga Y, Aramaki S, Kato S, Kato H (February 2001). "Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy".
220:
can result in multiple mitochondrial deficiencies and associated disorders. It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (
1201:
48:
1987:
1682:
893:"Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study"
1677:
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72:
2007:
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60:
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311:
53:
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1583:
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273:
269:
436:
1387:
1329:
1219:
314:, which may cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the
1441:
848:
Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW (February 2013).
1615:
1610:
1414:
1280:
850:"The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease"
1340:
299:
gene were also described: m.3271 T > C, m.3291 T > C, m.3303 C > T, m.3256 C > T, and m.3260 A>G.
326:). These signs and symptoms can appear at any time from birth to adulthood. Phenotypes of the condition include
1531:
1409:
364:
1578:
1365:
891:
Ballhausen D, Guerry F, Hahn D, Schaller A, Nuoffer JM, Bonafé L, Jeannet PY, Jacquemont S (December 2010).
163:
molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed
1573:
1230:
834:
196:
65:
1947:
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1563:
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1377:
265:
106:
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Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW (May 2005).
593:"Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation"
1788:
1694:
1551:
1500:
1446:
696:
394:
347:
264:. A common mutation is A3243G. This mutation has been theorized to be associated with several other
454:
1718:
1486:
1360:
1167:
1129:
1092:
1019:
916:
808:
683:
Mazzaccara C, Iafusco D, Liguori R, Ferrigno M, Galderisi A, Vitale D, et al. (2012-04-19).
665:
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gene pathogenic variants could be attributed to the alterations of mTERF binding efficiency.
1521:
1314:
1151:
1113:
1074:
1041:
1003:
973:
941:
900:
869:
861:
792:
756:
714:
704:
649:
604:
535:
488:
437:"MT-TI mitochondrially encoded tRNA isoleucine [Homo sapiens (human)] - Gene - NCBI"
402:
323:
152:
101:
1426:
1319:
285:
1063:"Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome"
892:
700:
398:
228:
is a rare mitochondrial disorder known to affect many parts of the body, especially the
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1062:
874:
849:
719:
684:
327:
315:
261:
229:
225:
110:
1155:
977:
2001:
1991:
1210:
830:
GeneReviews/NCBI/NIH/UW entry on
Mitochondrial DNA-Associated Leigh Syndrome and NARP
653:
609:
592:
578:
508:
253:
130:
1171:
1096:
920:
812:
669:
626:
1843:
1818:
1476:
1355:
1268:
1133:
1023:
422:
350:, and more. A 3302A>G mutation has been found in a patient with the deficiency.
281:
245:
126:
1045:
930:"LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation"
709:
89:
563:
184:
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904:
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946:
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339:
237:
188:
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1088:
1053:
955:
912:
883:
804:
760:
728:
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549:
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523:
500:
492:
179:(human mitochondrial map position 3230–3304) that transfers the amino acid
1117:
1015:
985:
768:
661:
414:
212:
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
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1546:
1179:
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289:
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257:
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1007:
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84:
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Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K (February 2000).
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233:
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This article incorporates text from this source, which is in the
292:) and various problems with a patient's eyes, heart, or kidneys.
160:
136:
77:
1183:
685:"Mitochondrial diabetes in children: seek and you will find it"
176:
159:
at position 12 and it spans 75 base pairs. The structure of a
284:, particularly of high pitches. Additional symptoms include
310:
mutations may result in complex I deficiency of the
1841:
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1707:
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1061:Huang CC, Chu CC, Pang CY, Wei YH (February 1999).
749:
100:
95:
83:
71:
59:
47:
39:
31:
26:
21:
479:Pathogenic Variants in Patient Repositories".
119:Mitochondrially encoded tRNA leucine 1 (UUA/G)
22:mitochondrially encoded tRNA leucine 1 (UUA/G)
1195:
236:. Symptoms of MELAS include recurrent severe
8:
1988:United States National Library of Medicine
1713:
1683:Mitochondrial permeability transition pore
1665:
1505:
1334:
1224:
1202:
1188:
1180:
1078:
945:
873:
718:
708:
608:
539:
1986:This article incorporates text from the
1678:Mitochondrial membrane transport protein
481:Genetic Testing and Molecular Biomarkers
16:Transfer RNA in the species Homo sapiens
1034:Diabetes Research and Clinical Practice
376:
1437:Cholesterol side-chain cleavage enzyme
897:Journal of Inherited Metabolic Disease
835:GeneReviews/NCBI/NIH/UW entry on MELAS
18:
322:, and the muscles used for movement (
199:. Also, some studies showed that the
7:
854:Journal of the Neurological Sciences
470:
468:
1351:Coenzyme Q – cytochrome c reductase
528:The Journal of Biological Chemistry
260:, and other problems affecting the
1537:Oxoglutarate dehydrogenase complex
1472:Glycerol-3-phosphate dehydrogenase
1080:10.1111/j.1600-0404.1999.tb00670.x
934:European Journal of Human Genetics
129:which in humans is encoded by the
14:
1482:Carnitine palmitoyltransferase II
1606:Carbamoyl phosphate synthetase I
1246:Long-chain-fatty-acid—CoA ligase
1241:Carnitine palmitoyltransferase I
610:10.1111/j.1600-0404.2007.00836.x
572:
175:MT-TL1 is a small 75 nucleotide
1467:Glutamate aspartate transporter
312:mitochondrial respiratory chain
1584:Pyruvate dehydrogenase complex
1542:Succinyl coenzyme A synthetase
274:Diabetes mellitus and deafness
270:diabetes mellitus and deafness
252:-like episodes with a loss of
1:
1156:10.1016/S0960-8966(02)00283-3
1067:Acta Neurologica Scandinavica
1046:10.1016/j.diabres.2003.10.024
978:10.1016/S0022-3476(97)70323-8
597:Acta Neurologica Scandinavica
295:Other rare point variants on
1388:Dihydroorotate dehydrogenase
710:10.1371/journal.pone.0034956
654:10.1016/0140-6736(92)92560-3
1442:Steroid 11-beta-hydroxylase
2024:
1616:N-Acetylglutamate synthase
1611:Ornithine transcarbamylase
1415:Glycerol phosphate shuttle
1281:monoamine neurotransmitter
2008:Human mitochondrial genes
1970:
1668:
1644:
1341:oxidative phosphorylation
966:The Journal of Pediatrics
905:10.1007/s10545-010-9098-2
866:10.1016/j.jns.2012.12.003
797:10.1016/j.nmd.2004.06.004
591:Finsterer J (July 2007).
459:Learn Science at Scitable
1532:Isocitrate dehydrogenase
1410:Malate-aspartate shuttle
365:Mitochondrial Myopathies
1579:Glutamate dehydrogenase
1366:Succinate dehydrogenase
1144:Neuromuscular Disorders
947:10.1038/sj.ejhg.5201363
899:. 33 Suppl 3: S219-26.
785:Neuromuscular Disorders
568:Genetics Home Reference
151:gene is located on the
1975:mitochondrial diseases
1574:Aspartate transaminase
1231:fatty acid degradation
761:10.1006/bbrc.1998.8437
541:10.1074/jbc.275.6.4251
493:10.1089/gtmb.2019.0079
266:mitochondrial diseases
1688:Mitochondrial carrier
1564:anaplerotic reactions
1400:mitochondrial shuttle
1378:pyrimidine metabolism
1118:10.1007/s004010000266
1106:Acta Neuropathologica
455:"tRNA / transfer RNA"
207:Clinical significance
1695:Translocator protein
1552:Malate dehydrogenase
1447:Aldosterone synthase
441:www.ncbi.nlm.nih.gov
348:exercise intolerance
303:Complex I deficiency
276:is characterized by
1307:Intermembrane space
701:2012PLoSO...734956M
399:1981Natur.290..457A
240:, muscle weakness (
1990:, which is in the
1662:Other/to be sorted
1627:alcohol metabolism
1487:Uncoupling protein
1361:NADH dehydrogenase
1008:10.1007/BF02185750
1982:
1981:
1966:
1965:
1709:Mitochondrial DNA
1703:
1702:
1657:
1656:
1512:citric acid cycle
1495:
1494:
1301:
1300:
1293:Monoamine oxidase
360:Mitochondrial DNA
195:synthesis during
157:mitochondrial DNA
116:
115:
2015:
1846:
1821:
1791:
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1714:
1666:
1629:
1599:
1567:
1522:Citrate synthase
1515:
1506:
1460:
1430:
1403:
1381:
1344:
1335:
1315:Adenylate kinase
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1262:
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648:(8832): 1376–9.
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407:10.1038/290457a0
393:(5806): 457–65.
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324:skeletal muscles
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1427:steroidogenesis
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1320:Creatine kinase
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841:Further reading
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286:muscle weakness
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996:Human Genetics
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860:(1–2): 165–9.
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824:External links
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487:(3): 165–170.
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328:encephalopathy
316:nervous system
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280:combined with
262:nervous system
230:nervous system
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1261:
1259:
1253:
1247:
1244:
1242:
1239:
1238:
1236:
1233:
1232:
1226:
1223:
1221:
1217:
1212:
1211:Mitochondrial
1205:
1200:
1198:
1193:
1191:
1186:
1185:
1182:
1173:
1169:
1165:
1161:
1157:
1153:
1150:(4): 334–40.
1149:
1145:
1139:
1135:
1131:
1127:
1123:
1119:
1115:
1112:(2): 179–84.
1111:
1107:
1102:
1098:
1094:
1090:
1086:
1081:
1076:
1072:
1068:
1064:
1059:
1055:
1051:
1047:
1043:
1039:
1035:
1029:
1025:
1021:
1017:
1013:
1009:
1005:
1002:(3): 269–73.
1001:
997:
991:
987:
983:
979:
975:
972:(1): 138–45.
971:
967:
961:
957:
953:
948:
943:
939:
935:
931:
926:
922:
918:
914:
910:
906:
902:
898:
894:
889:
885:
881:
876:
871:
867:
863:
859:
855:
851:
846:
845:
840:
836:
833:
831:
828:
827:
823:
814:
810:
806:
802:
798:
794:
791:(10): 683–8.
790:
786:
778:
775:
770:
766:
762:
758:
754:
750:
742:
739:
735:
730:
726:
721:
716:
711:
706:
702:
698:
695:(4): e34956.
694:
690:
686:
679:
676:
671:
667:
663:
659:
655:
651:
647:
643:
636:
633:
628:
624:
620:
616:
611:
606:
602:
598:
594:
587:
584:
580:
579:public domain
569:
565:
559:
556:
551:
547:
542:
537:
534:(6): 4251–7.
533:
529:
525:
518:
515:
510:
506:
502:
498:
494:
490:
486:
482:
478:
471:
469:
465:
460:
456:
450:
447:
442:
438:
432:
429:
424:
420:
416:
412:
408:
404:
400:
396:
392:
388:
380:
377:
370:
366:
363:
361:
358:
357:
353:
351:
349:
345:
341:
337:
333:
329:
325:
321:
317:
313:
309:
302:
300:
298:
293:
291:
287:
283:
279:
275:
271:
267:
263:
259:
255:
254:consciousness
251:
247:
243:
239:
235:
231:
227:
223:
219:
216:Mutations in
211:
206:
204:
202:
198:
194:
190:
187:chain at the
186:
183:to a growing
182:
178:
170:
168:
166:
162:
158:
154:
150:
142:
140:
138:
135:
132:
131:mitochondrial
128:
124:
120:
112:
111:
108:
105:
103:
99:
94:
91:
88:
86:
82:
79:
76:
74:
70:
67:
64:
62:
58:
55:
52:
50:
46:
42:
38:
34:
30:
25:
20:
1985:
1984:
1972:
1897:
1819:ATP synthase
1626:
1594:
1562:
1510:
1477:ATP synthase
1457:
1425:
1398:
1376:
1356:Cytochrome c
1339:
1279:
1269:Kynureninase
1256:
1229:
1147:
1143:
1109:
1105:
1073:(2): 125–9.
1070:
1066:
1040:(3): 225–9.
1037:
1033:
999:
995:
969:
965:
940:(5): 623–7.
937:
933:
896:
857:
853:
788:
784:
777:
755:(2): 523–7.
752:
748:
741:
732:
692:
688:
678:
645:
641:
635:
600:
596:
586:
567:
564:"MT-TH gene"
558:
531:
527:
517:
484:
480:
476:
458:
449:
440:
431:
390:
386:
379:
307:
306:
296:
294:
282:hearing loss
268:, including
246:hearing loss
217:
215:
200:
174:
148:
146:
133:
127:transfer RNA
122:
118:
117:
109:
40:Alt. symbols
1769:Complex III
603:(1): 1–14.
197:translation
185:polypeptide
27:Identifiers
1789:Complex IV
1596:urea cycle
1284:metabolism
1260:metabolism
1258:tryptophan
371:References
96:Other data
1973:see also
1719:Complex I
1527:Aconitase
509:212693790
340:hypotonia
238:headaches
143:Structure
90:NC_001807
49:NCBI gene
2002:Category
1673:Frataxin
1547:Fumarase
1213:proteins
1172:53265571
1164:12868503
1126:11271374
1097:12099444
1089:10071173
1054:14757294
956:15657614
921:24006011
913:20458543
884:23273904
813:38721676
805:15351426
729:22536343
689:PLOS ONE
670:34540249
627:43823627
619:17587249
550:10660592
501:32167396
354:See also
336:dystonia
332:epilepsy
290:myopathy
278:diabetes
258:seizures
242:myopathy
232:and the
191:site of
189:ribosome
171:Function
1833:MT-ATP8
1828:MT-ATP6
1748:MT-ND4L
1134:1970758
1024:6688307
1016:8786060
986:9003864
875:3560033
769:9571188
720:3334935
697:Bibcode
662:1360090
423:4355527
415:7219534
395:Bibcode
344:myalgia
193:protein
181:leucine
155:of the
107:Chr. MT
1938:MT-TS2
1933:MT-TS1
1903:MT-TL2
1898:MT-TL1
1808:MT-CO3
1803:MT-CO2
1798:MT-CO1
1778:MT-CYB
1758:MT-ND6
1753:MT-ND5
1743:MT-ND4
1738:MT-ND3
1733:MT-ND2
1728:MT-ND1
1501:Matrix
1170:
1162:
1132:
1124:
1095:
1087:
1052:
1022:
1014:
984:
954:
919:
911:
882:
872:
811:
803:
767:
734:chain.
727:
717:
668:
660:
642:Lancet
625:
617:
548:
507:
499:
477:MT-TL1
421:
413:
387:Nature
318:, the
297:MT-TL1
250:stroke
218:MT-TL1
201:MT-TL1
165:clover
149:MT-TL1
134:MT-TL1
123:MT-TL1
85:RefSeq
78:590050
35:MT-TL1
32:Symbol
1958:MT-TY
1953:MT-TW
1948:MT-TV
1943:MT-TT
1928:MT-TR
1923:MT-TQ
1918:MT-TP
1913:MT-TN
1908:MT-TM
1893:MT-TK
1888:MT-TI
1883:MT-TH
1878:MT-TG
1873:MT-TF
1868:MT-TE
1863:MT-TD
1858:MT-TC
1853:MT-TA
1649:PMPCB
1636:ALDH2
1458:other
1168:S2CID
1130:S2CID
1093:S2CID
1020:S2CID
917:S2CID
809:S2CID
666:S2CID
623:S2CID
505:S2CID
419:S2CID
320:heart
308:MT-TP
234:brain
226:MELAS
222:MELAS
153:p arm
125:is a
102:Locus
43:MTTL1
1844:tRNA
1160:PMID
1122:PMID
1085:PMID
1050:PMID
1012:PMID
982:PMID
952:PMID
909:PMID
880:PMID
801:PMID
765:PMID
725:PMID
658:PMID
615:PMID
546:PMID
497:PMID
411:PMID
161:tRNA
147:The
137:gene
73:OMIM
66:7490
61:HGNC
54:4567
1152:doi
1114:doi
1110:101
1075:doi
1042:doi
1004:doi
974:doi
970:130
942:doi
901:doi
870:PMC
862:doi
858:325
793:doi
757:doi
753:245
715:PMC
705:doi
650:doi
646:340
605:doi
601:116
536:doi
532:275
489:doi
403:doi
391:290
244:),
224:).
177:RNA
2004::
1166:.
1158:.
1148:13
1146:.
1128:.
1120:.
1108:.
1091:.
1083:.
1071:99
1069:.
1065:.
1048:.
1038:63
1036:.
1018:.
1010:.
1000:97
998:.
980:.
968:.
950:.
938:13
936:.
932:.
915:.
907:.
895:.
878:.
868:.
856:.
852:.
807:.
799:.
789:14
787:.
763:.
751:.
731:.
723:.
713:.
703:.
691:.
687:.
664:.
656:.
644:.
621:.
613:.
599:.
595:.
566:.
544:.
530:.
526:.
503:.
495:.
485:24
483:.
467:^
457:.
439:.
417:.
409:.
401:.
389:.
346:,
342:,
338:,
334:,
330:,
272:.
256:,
248:,
167:.
139:.
1994:.
1203:e
1196:t
1189:v
1174:.
1154::
1136:.
1116::
1099:.
1077::
1056:.
1044::
1026:.
1006::
988:.
976::
958:.
944::
923:.
903::
886:.
864::
815:.
795::
771:.
759::
707::
699::
693:7
672:.
652::
629:.
607::
581:.
570:.
552:.
538::
511:.
491::
461:.
443:.
425:.
405::
397::
288:(
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