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T1 Age 2 9 newborn T2 Sex 10 13 boy T3 Family_history 17 50 healthy nonconsanguineous parents T4 Clinical_event 55 64 delivered E1 Clinical_event:T4 T5 Date 68 87 37 weeks’ gestation E2 Date:T5 T6 Therapeutic_procedure 91 107 cesarean section E3 Therapeutic_procedure:T6 T7 Subject 113 119 mother T8 Family_history 132 144 32 years old T9 Family_history 121 130 primipara T10 Clinical_event 155 163 admitted E4 Clinical_event:T10 T11 Nonbiological_location 171 179 hospital T12 Date 180 198 2 weeks previously E5 Date:T12 T13 Sign_symptom 218 246 fetal intrauterine movements E6 Sign_symptom:T13 T14 Lab_value 210 217 reduced R1 MODIFY Arg1:T14 Arg2:E6 T15 Sign_symptom 251 265 polyhydramnios E7 Sign_symptom:T15 T16 Diagnostic_procedure 279 290 birthweight E8 Diagnostic_procedure:T16 T17 Lab_value 295 302 2,330 g R2 MODIFY Arg1:T17 Arg2:E8 T18 Lab_value 304 320 <10th percentile R3 MODIFY Arg1:T18 Arg2:E8 T19 Diagnostic_procedure 323 329 length E9 Diagnostic_procedure:T19 T20 Lab_value 330 335 47 cm R4 MODIFY Arg1:T20 Arg2:E9 T21 Diagnostic_procedure 341 359 head circumference E10 Diagnostic_procedure:T21 T22 Lab_value 360 367 33.2 cm R5 MODIFY Arg1:T22 Arg2:E10 T23 Sign_symptom 394 406 low-set ears E11 Sign_symptom:T23 T24 Sign_symptom 411 429 bilateral clubfoot E12 Sign_symptom:T24 T25 Diagnostic_procedure 431 443 Apgar scores E13 Diagnostic_procedure:T25 T26 Time 464 465;477 484 1 minutes E14 Time:T26 T27 Time 474 484 10 minutes E15 Time:T27 T28 Time 467 468;477 484 5 minutes E16 Time:T28 T29 Lab_value 449 450 2 T30 Lab_value 452 453 6 T31 Lab_value 459 460 7 R6 MODIFY Arg1:E14 Arg2:T29 R7 MODIFY Arg1:T29 Arg2:E13 R8 MODIFY Arg1:E16 Arg2:T30 R9 MODIFY Arg1:T30 Arg2:E13 R10 MODIFY Arg1:E15 Arg2:T31 R11 MODIFY Arg1:T31 Arg2:E13 T32 Sign_symptom 518 527 hypotonia E17 Sign_symptom:T32 T33 Severity 511 517 severe R12 MODIFY Arg1:T33 Arg2:E17 T34 Clinical_event 496 505 presented E18 Clinical_event:T34 T35 Sign_symptom 532 559 generalized muscle weakness E19 Sign_symptom:T35 T36 Therapeutic_procedure 571 593 ventilatory assistance E20 Therapeutic_procedure:T36 T37 Therapeutic_procedure 598 624 total parenteral nutrition E21 Therapeutic_procedure:T37 T38 Disease_disorder 689 709 respiratory acidosis E22 Disease_disorder:T38 T39 Sign_symptom 711 723 Hearing loss E23 Sign_symptom:T39 T40 Diagnostic_procedure 740 766 auditory evoked potentials E24 Diagnostic_procedure:T40 T41 Diagnostic_procedure 782 785 MRI E25 Diagnostic_procedure:T41 T42 Biological_structure 774 781 cranial R13 MODIFY Arg1:T42 Arg2:E25 T43 Lab_value 793 808 mildly enlarged T44 Biological_structure 809 819 ventricles R14 MODIFY Arg1:T43 Arg2:T44 R15 MODIFY Arg1:T44 Arg2:E25 T45 Biological_structure 824 837 liquor spaces R16 MODIFY Arg1:T43 Arg2:T45 R17 MODIFY Arg1:T45 Arg2:E25 T46 Date 839 859 Two days after birth E26 Date:T46 T47 Sign_symptom 894 914 abdominal distension E27 Sign_symptom:T47 T48 Severity 887 893 severe R18 MODIFY Arg1:T48 Arg2:E27 T49 Sign_symptom 922 938 hypoactive bowel E28 Sign_symptom:T49 T50 Diagnostic_procedure 940 943 MRI E29 Diagnostic_procedure:T50 T51 Sign_symptom 960 979 intestinal dilation E30 Sign_symptom:T51 T52 Severity 953 959 marked R19 MODIFY Arg1:T52 Arg2:E30 T53 Sign_symptom 988 1010 mechanical obstruction E31 Sign_symptom:T53 A1 POLARITY E31 NEG R20 MODIFY Arg1:E31 Arg2:E30 T54 Diagnostic_procedure 1012 1037 Laboratory investigations E32 Diagnostic_procedure:T54 T56 Lab_value 1059 1067 27 mg/dL T57 Sign_symptom 1070 1084 hypomagnesemia E33 Sign_symptom:T57 T55 Sign_symptom 1045 1057 hypoglycemia E34 Sign_symptom:T55 T58 Lab_value 1086 1097 0.58 mmol/L T59 Lab_value 1117 1127 2.4 mmol/L R21 MODIFY Arg1:T56 Arg2:E34 R22 MODIFY Arg1:T58 Arg2:E33 T60 Sign_symptom 1104 1115 hypokalemia E35 Sign_symptom:T60 R23 MODIFY Arg1:T59 Arg2:E35 R24 MODIFY Arg1:E34 Arg2:E32 R25 MODIFY Arg1:E33 Arg2:E32 R26 MODIFY Arg1:E35 Arg2:E32 T61 Diagnostic_procedure 1130 1143 Blood lactate E36 Diagnostic_procedure:T61 T62 Lab_value 1156 1166 1.3 mmol/L T63 Lab_value 1148 1154 normal T64 Diagnostic_procedure 1201 1214 liver enzymes E37 Diagnostic_procedure:T64 T65 Lab_value 1220 1232 unremarkable R27 MODIFY Arg1:T65 Arg2:E37 R28 MODIFY Arg1:T63 Arg2:E36 R29 MODIFY Arg1:T62 Arg2:E36 T66 Detailed_description 1168 1195 normal range 0.5–2.2 mmol/L R30 MODIFY Arg1:T66 Arg2:E36 T67 Diagnostic_procedure 1252 1258 biopsy E38 Diagnostic_procedure:T67 T68 Biological_structure 1236 1251 skeletal muscle R31 MODIFY Arg1:T68 Arg2:E38 T69 Disease_disorder 1419 1441 mitochondrial disorder E39 Disease_disorder:T69 A2 POLARITY E39 UNCERTAIN T70 Biological_structure 1382 1395 muscle fibers T71 Diagnostic_procedure 1308 1328 cytochrome c oxidase E40 Diagnostic_procedure:T71 T72 Diagnostic_procedure 1330 1333 COX E41 Diagnostic_procedure:T72 R32 IDENTICAL Arg1:E41 Arg2:E40 T73 Lab_value 1335 1344 deficient R33 MODIFY Arg1:T73 Arg2:E40 T74 Diagnostic_procedure 1349 1372 succinate dehydrogenase E42 Diagnostic_procedure:T74 T75 Lab_value 1373 1381 positive R34 MODIFY Arg1:T75 Arg2:E42 T76 Detailed_description 1284 1293 scattered R35 MODIFY Arg1:T76 Arg2:T70 T77 Detailed_description 1295 1307 hypertrophic R36 MODIFY Arg1:T77 Arg2:T70 R37 MODIFY Arg1:T70 Arg2:E40 R38 MODIFY Arg1:T70 Arg2:E42 T78 Diagnostic_procedure 1443 1468 Molecular genetic studies E43 Diagnostic_procedure:T78 T79 Sign_symptom 1485 1500 mtDNA depletion E44 Sign_symptom:T79 T80 Severity 1478 1484 marked R39 MODIFY Arg1:T80 Arg2:E44 T81 Lab_value 1512 1524 93% decrease R40 MODIFY Arg1:T81 Arg2:E44 T82 Detailed_description 1528 1560 compared to age-matched controls R41 MODIFY Arg1:T82 Arg2:T81 T83 Diagnostic_procedure 1571 1602 screen for mtDNA rearrangements E45 Diagnostic_procedure:T83 T84 Biological_structure 1610 1633;1652 1658 individual COX-positive fibers T85 Biological_structure 1638 1658 COX-deficient fibers T86 Lab_value 1664 1672 negative R42 MODIFY Arg1:T84 Arg2:E45 R43 MODIFY Arg1:T85 Arg2:E45 R44 MODIFY Arg1:T86 Arg2:E45 T87 Diagnostic_procedure 1677 1686 sequenced E46 Diagnostic_procedure:T87 T88 Biological_structure 1746 1756 POLG1 gene R45 MODIFY Arg1:T88 Arg2:E46 T89 Detailed_description 1691 1738 entire coding region and intron-exon boundaries R46 MODIFY Arg1:T89 Arg2:E46 T90 Sign_symptom 1783 1814 heterozygous missense mutations E47 Sign_symptom:T90 T91 Lab_value 1770 1773 two R47 MODIFY Arg1:T91 Arg2:E47 T92 Sign_symptom 1827 1854 c.679C>T predicting p.R227W E48 Sign_symptom:T92 R48 MODIFY Arg1:E48 Arg2:E47 T93 Sign_symptom 1859 1887 c.2542G>A predicting p.G848S E49 Sign_symptom:T93 R49 MODIFY Arg1:E49 Arg2:E47 T94 Diagnostic_procedure 1889 1919 Sequencing of parental samples E50 Diagnostic_procedure:T94 T95 Sign_symptom 1930 1951 recessive inheritance E51 Sign_symptom:T95 T96 Outcome 1964 1968 died E52 Outcome:T96 T97 Date 1972 1979 20 days E53 Date:T97 T98 Disease_disorder 1983 2002 respiratory failure E54 Disease_disorder:T98 T99 Diagnostic_procedure 2007 2014 autopsy E55 Diagnostic_procedure:T99 T100 Diagnostic_procedure 2061 2078 gross examination E56 Diagnostic_procedure:T100 T101 Sign_symptom 2039 2057 remarkable changes E57 Sign_symptom:T101 A3 POLARITY E57 NEG T102 Biological_structure 2020 2025 brain R50 MODIFY Arg1:T102 Arg2:E57 R51 SUB_PROCEDURE Arg1:E56 Arg2:E55 T103 Diagnostic_procedure 2080 2089 Histology E58 Diagnostic_procedure:T103 R52 SUB_PROCEDURE Arg1:E58 Arg2:E55 T104 Sign_symptom 2171 2186 neuronal damage E59 Sign_symptom:T104 A4 POLARITY E59 NEG T105 Biological_structure 2194 2205 spinal cord R53 MODIFY Arg1:T105 Arg2:E59 T106 Sign_symptom 2232 2243 cholestasis E60 Sign_symptom:T106 T107 Biological_structure 2211 2216 liver R54 MODIFY Arg1:T107 Arg2:E60 T108 Detailed_description 2224 2231 diffuse R55 MODIFY Arg1:T108 Arg2:E60 T109 Sign_symptom 2300 2309 steatosis E61 Sign_symptom:T109 A5 POLARITY E61 NEG T110 Sign_symptom 2311 2319 necrosis E62 Sign_symptom:T110 A6 POLARITY E62 NEG T111 Biological_structure 2289 2299 hepatocyte R56 MODIFY Arg1:T111 Arg2:E61 R57 MODIFY Arg1:T111 Arg2:E62 T112 Sign_symptom 2330 2338 fibrosis E63 Sign_symptom:T112 A7 POLARITY E63 NEG T113 Biological_structure 2324 2329 liver R58 MODIFY Arg1:T113 Arg2:E63 T114 Sign_symptom 2454 2462 dilation E64 Sign_symptom:T114 T115 Sign_symptom 2467 2475 thinning E65 Sign_symptom:T115 T116 Biological_structure 2483 2493 bowel wall R59 MODIFY Arg1:T116 Arg2:E65 R60 MODIFY Arg1:T116 Arg2:E64 T117 Sign_symptom 2587 2602 mtDNA depletion E66 Sign_symptom:T117 T118 Severity 2580 2586 severe R61 MODIFY Arg1:T118 Arg2:E66 T119 Lab_value 2604 2622 up to 94% decrease R62 MODIFY Arg1:T119 Arg2:E66 T120 Biological_structure 2533 2540;2559 2570 stomach homogenates T121 Biological_structure 2542 2547;2559 2570 ileum homogenates T122 Biological_structure 2553 2570 colon homogenates R63 MODIFY Arg1:T122 Arg2:E66 R64 MODIFY Arg1:T120 Arg2:E66 R65 MODIFY Arg1:T121 Arg2:E66 T123 Diagnostic_procedure 2684 2722 Laser capture microdissection analysis E67 Diagnostic_procedure:T123 T124 Coreference 2742 2757 mtDNA depletion E68 Coreference:T124 R66 IDENTICAL Arg1:E68 Arg2:E66 T125 Biological_structure 2778 2796 muscularis propria R67 MODIFY Arg1:T125 Arg2:E68 T126 Detailed_description 2826 2840 external layer R68 MODIFY Arg1:T126 Arg2:T125 T127 Coreference 2906 2921 mtDNA depletion E69 Coreference:T127 T128 Severity 2899 2905 milder R69 MODIFY Arg1:T128 Arg2:E69 R70 IDENTICAL Arg1:E69 Arg2:E66 T129 Biological_structure 2851 2865 Ganglion cells T130 Biological_structure 2875 2891 myenteric plexus R71 MODIFY Arg1:T129 Arg2:T130 R72 MODIFY Arg1:T130 Arg2:E69 T131 Biological_structure 2941 2956 small intestine R73 MODIFY Arg1:T131 Arg2:E69 T132 Sign_symptom 2980 2995 mtDNA depletion E70 Sign_symptom:T132 A8 POLARITY E70 NEG T133 Biological_structure 2999 3004 liver R74 MODIFY Arg1:T133 Arg2:E70 R75 MODIFY Arg1:T9 Arg2:T7 R76 MODIFY Arg1:T8 Arg2:T7 R77 MODIFY Arg1:T7 Arg2:E4 R78 MODIFY Arg1:T11 Arg2:E4 R79 AFTER Arg1:E3 Arg2:E4 * OVERLAP E1 E2 E3 * OVERLAP E4 E5 E6 E7 R80 BEFORE Arg1:E7 Arg2:E8 * OVERLAP E8 E9 E10 E11 E12 E13 E18 E17 E19 E20 E21 E22 E23 E24 E25 R81 BEFORE Arg1:E25 Arg2:E26 * OVERLAP E26 E27 E28 E29 E30 E32 E36 E37 E38 E40 E42 E39 E43 E44 E45 E46 E47 E50 E51 R82 BEFORE Arg1:E51 Arg2:E52 * OVERLAP E52 E53 E54 R83 BEFORE Arg1:E54 Arg2:E55 * OVERLAP E55 E57 E59 E60 E61 E62 E63 E64 E65 E66 E67 E68 E69 E70