{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001598862,0.0001873688,0.0002052952,0.00005313745,0.0002849661,0.0001062065,0.0001346219,0.0001425278,0.00004660521],"category_scores_gemma":[0.0003751233,0.0001392584,0.0000391643,0.0002431786,0.000382218,0.00002198132,0.0001725213,0.0001466478,0.000007895286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004619798,"about_ca_system_score_gemma":0.00005602634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001151297,"about_ca_topic_score_gemma":0.00008716524,"domain_scores_codex":[0.9981738,0.0002636116,0.0001831432,0.0008455703,0.0002180597,0.0003157708],"domain_scores_gemma":[0.9994049,0.0001013136,0.00006570236,0.0001731629,0.00006727922,0.000187663],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004700869,0.00008026512,0.01327709,0.00001470594,0.00001576873,0.0009401046,0.0001094928,0.0002374645,0.9787443,0.0003164657,0.0002539619,0.005540312],"study_design_scores_gemma":[0.009710299,0.06396501,0.5515257,0.0001448149,0.0005111489,0.04180793,0.002255688,0.005627049,0.2261445,0.001790146,0.09239551,0.004122237],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951294,0.0005481406,0.001676593,0.001112991,0.000746035,0.0001792811,0.00001054085,0.00002387064,0.0005731418],"genre_scores_gemma":[0.9899897,0.00009016231,0.006631848,0.002699386,0.0003529097,0.00002817387,0.00001348891,0.000009771037,0.0001845366],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7525998,"threshold_uncertainty_score":0.567879,"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."}}