{"id":"W3143393901","doi":"10.1007/s10072-021-05155-9","title":"Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation","year":2021,"lang":"en","type":"article","venue":"Neurological Sciences","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"National Natural Science Foundation of China; Qingdao Key Health Discipline Development Fund","keywords":"Heteroplasmy; Proband; Lactic acidosis; Mitochondrial encephalomyopathy; Medicine; Muscle biopsy; Respiratory chain; Mitochondrial respiratory chain; Dystonia; Mitochondrial myopathy; Mutation; Internal medicine; Pathology; Mitochondrial DNA; Endocrinology; Biology; Genetics; Biopsy; Mitochondrion; Psychiatry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002089363,0.00146489,0.0005464773,0.001170416,0.001102739,0.0004461306,0.0004777507,0.001855295,0.00533786],"category_scores_gemma":[0.00114127,0.0003444541,0.0005377383,0.0006483207,0.0007355742,0.000576825,0.0007890693,0.0007033529,0.0006755038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000822489,"about_ca_system_score_gemma":0.0009076681,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005560723,"about_ca_topic_score_gemma":0.005684767,"domain_scores_codex":[0.9996724,0.00003961353,0.00004949322,0.00007713988,0.00006220124,0.0000991904],"domain_scores_gemma":[0.9995647,0.0001017424,0.0001164143,0.00001407973,0.00002696754,0.0001761089],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004021653,0.00009027943,0.01879069,0.00007101911,0.00004759116,0.9629977,0.0002352659,0.0002598931,0.01343239,0.0009644539,0.000632624,0.002075782],"study_design_scores_gemma":[0.0002411445,0.0004396534,0.1481423,0.00005751763,0.0001774844,0.8374228,0.0003129493,0.001531423,0.007246125,0.002017074,0.002343606,0.00006787854],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864819,0.0006857735,0.001314675,0.001213102,0.0001871692,0.0001213319,0.0007537626,0.00009259399,0.009149671],"genre_scores_gemma":[0.9970764,0.0001427097,0.0003992708,0.0001803059,0.0001027791,0.0000173594,0.0001813658,0.00001088894,0.001888962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005560723,"threshold_uncertainty_score":0.01785696,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01145253273822393,"score_gpt":0.2314047703701155,"score_spread":0.2199522376318915,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}