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T1 Age 5 16 16-year-old T2 Sex 17 20 boy T3 Family_history 44 70 non-consanguineous parents T4 Family_history 72 121 His parents and two younger siblings were healthy T5 Date 160 174 7 years of age E1 Date:T5 T6 Sign_symptom 199 214 short in height E2 Sign_symptom:T6 T7 Sign_symptom 216 231 slightly myopic E3 Sign_symptom:T7 T8 Sign_symptom 233 243 astigmatic E4 Sign_symptom:T8 T9 Sign_symptom 256 279 subnormal visual acuity E5 Sign_symptom:T9 T10 Diagnostic_procedure 281 312 Endocrinological investigations E6 Diagnostic_procedure:T10 T11 Sign_symptom 374 404 growth hormone (GH) deficiency E7 Sign_symptom:T11 T12 Lab_value 352 369 borderline values R1 MODIFY Arg1:T12 Arg2:E7 T13 Medication 452 454 GH E8 Medication:T13 T14 Clinical_event 426 433 treated E9 Clinical_event:T14 T15 Sign_symptom 467 499 beneficiary effect on his growth E10 Sign_symptom:T15 A1 POLARITY E10 NEG R2 MODIFY Arg1:E8 Arg2:E9 R3 CAUSE Arg1:E8 Arg2:E10 T16 Sign_symptom 518 560 height and weight was −3 SD below the mean E11 Sign_symptom:T16 T17 Date 508 516 16 years E12 Date:T17 T18 Diagnostic_procedure 612 643 Ophthalmological investigations E13 Diagnostic_procedure:T18 T19 Date 647 662 10 years of age E14 Date:T19 T20 Sign_symptom 670 692 pigmentary retinopathy E15 Sign_symptom:T20 T21 Sign_symptom 697 710 optic atrophy E16 Sign_symptom:T21 T22 Diagnostic_procedure 715 732 electroretinogram E17 Diagnostic_procedure:T22 T23 Sign_symptom 767 785 rod cone dystrophy E18 Sign_symptom:T23 T24 Severity 760 766 severe R4 MODIFY Arg1:T24 Arg2:E18 T25 Sign_symptom 804 817 visual acuity E19 Sign_symptom:T25 T26 Sign_symptom 819 832 visual fields E20 Sign_symptom:T26 T27 Sign_symptom 834 846 color vision E21 Sign_symptom:T27 T28 Sign_symptom 852 865 dark adaption E22 Sign_symptom:T28 T29 Lab_value 794 803 decreased R5 MODIFY Arg1:T29 Arg2:E19 R6 MODIFY Arg1:T29 Arg2:E20 R7 MODIFY Arg1:T29 Arg2:E21 R8 MODIFY Arg1:T29 Arg2:E22 T30 Sign_symptom 867 876 Nystagmus E23 Sign_symptom:T30 T31 Date 898 913 14 years of age E24 Date:T31 T32 Sign_symptom 929 940 photophobia E25 Sign_symptom:T32 T33 Sign_symptom 945 964 bilateral cataracts E26 Sign_symptom:T33 T34 Therapeutic_procedure 985 1011 cataracts were operated on E27 Therapeutic_procedure:T34 T35 Date 1015 1030 16 years of age E28 Date:T35 T36 Date 1052 1067 14 years of age E29 Date:T36 T37 Diagnostic_procedure 1089 1116 neurological investigations E30 Diagnostic_procedure:T37 T38 Diagnostic_procedure 1120 1140 clinical examination E31 Diagnostic_procedure:T38 T39 Sign_symptom 1153 1171 ataxia with tremor E32 Sign_symptom:T39 T40 Severity 1148 1152 mild R13 MODIFY Arg1:T40 Arg2:E32 T41 Sign_symptom 1173 1182 dysmetria E33 Sign_symptom:T41 T42 Sign_symptom 1187 1203 gait instability E34 Sign_symptom:T42 T43 Sign_symptom 1235 1250 muscle weakness E35 Sign_symptom:T43 T44 Severity 1218 1234 mild to moderate R14 MODIFY Arg1:T44 Arg2:E35 T45 Severity 1252 1266 weak to absent T46 Sign_symptom 1267 1282 tendon reflexes E36 Sign_symptom:T46 R15 MODIFY Arg1:T45 Arg2:E36 T47 Biological_structure 1290 1307 lower extremities T48 Sign_symptom 1313 1333 exercise intolerance E37 Sign_symptom:T48 T49 Diagnostic_procedure 1335 1361 Audiometric investigations E38 Diagnostic_procedure:T49 T50 Sign_symptom 1388 1420 sensorineural hearing impairment E39 Sign_symptom:T50 T51 Detailed_description 1378 1387 bilateral T52 Severity 1373 1377 mild R16 MODIFY Arg1:T51 Arg2:E39 R17 MODIFY Arg1:T52 Arg2:E39 T53 Date 1425 1440 15 years of age E40 Date:T53 T54 Detailed_description 1452 1462 unprovoked T55 Sign_symptom 1463 1480 epileptic seizure E41 Sign_symptom:T55 T56 Clinical_event 1508 1515 treated E42 Clinical_event:T56 T57 Medication 1521 1534 levetiracetam E43 Medication:T57 T58 Sign_symptom 1536 1560 Decreased renal function E44 Sign_symptom:T58 T59 Date 1579 1594 15 years of age E45 Date:T59 T60 Diagnostic_procedure 1611 1627 serum creatinine E46 Diagnostic_procedure:T60 T61 Lab_value 1601 1610 increased T62 Lab_value 1631 1641 145 μmol/l R18 MODIFY Arg1:T61 Arg2:E46 R19 MODIFY Arg1:T62 Arg2:E46 T63 Sign_symptom 1677 1688 proteinuria E47 Sign_symptom:T63 T64 Diagnostic_procedure 1694 1708 urine albumine E48 Diagnostic_procedure:T64 T65 Lab_value 1712 1724 244–538 mg/l T66 Diagnostic_procedure 1759 1784 urine albumine/creatinine E49 Diagnostic_procedure:T66 T67 Lab_value 1794 1805 44–59 g/mol T68 Biological_structure 1839 1844 renal T69 Diagnostic_procedure 1845 1857 scintigraphy E50 Diagnostic_procedure:T69 T70 Sign_symptom 1871 1890 reduced kidney size E51 Sign_symptom:T70 T71 Diagnostic_procedure 1892 1911 Cr51-EDTA clearance E52 Diagnostic_procedure:T71 T72 Lab_value 1921 1930 decreased T73 Diagnostic_procedure 1931 1957 glomerular filtration rate E53 Diagnostic_procedure:T73 T74 Lab_value 1961 1975 42% of normal. T75 Coreference 1980 1995 filtration rate E54 Coreference:T75 R20 IDENTICAL Arg1:E54 Arg2:E53 T76 Lab_value 1996 2005 decreased T77 Lab_value 2019 2032 29% of normal T78 Date 2036 2051 16 years of age E55 Date:T78 T79 Diagnostic_procedure 2076 2098 cardiac investigations E56 Diagnostic_procedure:T79 T80 Sign_symptom 2117 2128 hypertrophy E57 Sign_symptom:T80 T81 Biological_structure 2136 2163 walls of the left ventricle T83 Diagnostic_procedure 2277 2305 Mitochondrial investigations E59 Diagnostic_procedure:T83 T84 Date 2059 2074 14 years of age E60 Date:T84 T85 Date 2324 2339 14 years of age E61 Date:T85 T86 Sign_symptom 2249 2275 obstruction of the outflow E62 Sign_symptom:T86 A2 POLARITY E62 NEG T82 Severity 2198 2204 normal T87 Sign_symptom 2205 2236 systolic and diastolic function E58 Sign_symptom:T87 R21 MODIFY Arg1:T82 Arg2:E58 T88 Diagnostic_procedure 2357 2364 lactate E63 Diagnostic_procedure:T88 T89 Diagnostic_procedure 2369 2377 pyruvate E64 Diagnostic_procedure:T89 T90 Lab_value 2383 2386 1.6 T91 Lab_value 2391 2403 0.096 mmol/l R22 MODIFY Arg1:T90 Arg2:E63 R23 MODIFY Arg1:T91 Arg2:E64 T93 Diagnostic_procedure 2341 2353 Blood levels E65 Diagnostic_procedure:T93 R24 SUB_PROCEDURE Arg1:E63 Arg2:E65 R25 SUB_PROCEDURE Arg1:E64 Arg2:E65 T94 Diagnostic_procedure 2476 2495 cerebrospinal fluid E66 Diagnostic_procedure:T94 T95 Diagnostic_procedure 2497 2500 CSF E67 Diagnostic_procedure:T95 T96 Diagnostic_procedure 2512 2519 lactate E68 Diagnostic_procedure:T96 T97 Diagnostic_procedure 2524 2532 pyruvate E69 Diagnostic_procedure:T97 T98 Lab_value 2538 2541 3.6 T99 Lab_value 2546 2559 0.137 mmol/l, T100 Diagnostic_procedure 2587 2612 lactate to pyruvate ratio E70 Diagnostic_procedure:T100 T92 Diagnostic_procedure 2432 2437 ratio E71 Diagnostic_procedure:T92 T101 Lab_value 2441 2443 33 R26 MODIFY Arg1:T101 Arg2:E71 R27 IDENTICAL Arg1:E70 Arg2:E71 T102 Lab_value 2616 2618 26 R28 MODIFY Arg1:T102 Arg2:E70 R29 MODIFY Arg1:T98 Arg2:E68 R30 MODIFY Arg1:T99 Arg2:E69 T103 Diagnostic_procedure 2624 2649 urinary lactate excretion E72 Diagnostic_procedure:T103 T104 Lab_value 2654 2660 normal R31 MODIFY Arg1:T104 Arg2:E72 T105 Diagnostic_procedure 2666 2677 CSF albumin E73 Diagnostic_procedure:T105 T106 Lab_value 2695 2703 258 mg/l T107 Lab_value 2682 2691 increased T108 Diagnostic_procedure 2761 2785 CSF/plasma albumin ratio E74 Diagnostic_procedure:T108 T109 Lab_value 2789 2792 7.4 T110 Lab_value 2751 2760 increased R32 MODIFY Arg1:T109 Arg2:E74 R33 MODIFY Arg1:T110 Arg2:E74 R34 MODIFY Arg1:T107 Arg2:E73 R35 MODIFY Arg1:T106 Arg2:E73 T111 Diagnostic_procedure 2819 2847 serum acyl carnitine profile E75 Diagnostic_procedure:T111 T112 Diagnostic_procedure 2852 2875 muscle carnitine levels E76 Diagnostic_procedure:T112 T113 Diagnostic_procedure 2893 2923 serum creatine kinase activity E77 Diagnostic_procedure:T113 T114 Lab_value 2881 2887 normal R36 MODIFY Arg1:T114 Arg2:E76 R37 MODIFY Arg1:T114 Arg2:E75 T115 Lab_value 2928 2944 mildly increased T116 Lab_value 2948 2958 5.4 μkat/l R38 MODIFY Arg1:T115 Arg2:E77 R39 MODIFY Arg1:T116 Arg2:E77 T117 Date 915 927 A year later E78 Date:T117 T118 Date 1038 1041 now E79 Date:T118 T119 Sign_symptom 1042 1047 blind E80 Sign_symptom:T119 * OVERLAP E1 E2 E3 E4 E5 E6 E7 E8 E10 R9 BEFORE Arg1:E10 Arg2:E12 * OVERLAP E12 E11 R10 AFTER Arg1:E11 Arg2:E13 * OVERLAP E13 E14 E15 E16 E17 E18 E19 E20 E21 E22 R11 BEFORE Arg1:E22 Arg2:E23 * OVERLAP E23 E24 R12 BEFORE Arg1:E24 Arg2:E78 * OVERLAP E78 E25 E26 R40 BEFORE Arg1:E26 Arg2:E27 * OVERLAP E27 E28 R41 BEFORE Arg1:E28 Arg2:E79 * OVERLAP E79 E80 R42 AFTER Arg1:E80 Arg2:E29 * OVERLAP E29 E30 E31 E32 E33 E34 E35 E36 E37 E38 E39 R43 BEFORE Arg1:E39 Arg2:E40 * OVERLAP E40 E41 E42 E44 E45 E46 E47 E49 E50 E51 E52 E53 R44 MODIFY Arg1:E43 Arg2:E42 R45 MODIFY Arg1:T65 Arg2:E48 R46 MODIFY Arg1:T67 Arg2:E49 R47 MODIFY Arg1:E48 Arg2:E47 R48 MODIFY Arg1:T68 Arg2:E50 R49 MODIFY Arg1:T72 Arg2:E53 R50 BEFORE Arg1:E53 Arg2:E54 R51 MODIFY Arg1:T76 Arg2:E54 R52 MODIFY Arg1:T77 Arg2:E54 * OVERLAP E54 E55 R53 AFTER Arg1:E55 Arg2:E60 * OVERLAP E60 E56 E57 E58 E62 E59 E61 E65 E67 E66 E72 E73 E74 E75 E76 E77 R54 MODIFY Arg1:T81 Arg2:E57 R55 SUB_PROCEDURE Arg1:E71 Arg2:E65 R56 SUB_PROCEDURE Arg1:E68 Arg2:E66 R57 SUB_PROCEDURE Arg1:E69 Arg2:E66 R58 SUB_PROCEDURE Arg1:E70 Arg2:E66