{"id":"W2942016984","doi":"10.1016/j.mito.2019.04.003","title":"Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C)","year":2019,"lang":"en","type":"article","venue":"Mitochondrion","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; McMaster University Medical Centre","funders":"Canadian Institutes of Health Research","keywords":"Heteroplasmy; Mitochondrial DNA; Muscle biopsy; Kearns–Sayre syndrome; Ataxia; Myasthenia gravis; Myopathy; Mitochondrial myopathy; Exercise intolerance; Genetics; Muscle weakness; Failure to thrive; Myotonic dystrophy; Biology; Internal medicine; Endocrinology; Medicine; Gene; Biopsy; Neuroscience; Heart failure","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000142552,0.000407011,0.0003678792,0.0001134813,0.0001834214,0.00007346972,0.0002894227,0.0005036614,0.0005713552],"category_scores_gemma":[0.0001369741,0.0003586448,0.0001933956,0.0002989452,0.0001003854,0.00001992663,0.00008763494,0.0003176173,0.0006623383],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000051047,"about_ca_system_score_gemma":0.0001515833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001339647,"about_ca_topic_score_gemma":0.0001824202,"domain_scores_codex":[0.9974912,0.000308078,0.0003990265,0.0008926652,0.0003833801,0.0005256047],"domain_scores_gemma":[0.9985625,0.00005296052,0.0002525175,0.0007224366,0.0002303207,0.0001792623],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001063052,0.0002353023,0.004920141,0.00001712669,0.0001924235,0.0000423914,0.0001974965,0.0004903069,0.9821501,0.0001725638,0.008724026,0.00179501],"study_design_scores_gemma":[0.03048528,0.01824683,0.04195291,0.0005222744,0.0006735856,0.001385463,0.0007605247,0.001562802,0.2816463,0.0005533633,0.617581,0.004629625],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844015,0.0001991521,0.005448062,0.0001264428,0.004439492,0.001081898,0.00004070159,0.0001166627,0.00414615],"genre_scores_gemma":[0.9711152,0.00001926598,0.001447462,0.0006758234,0.001185638,0.0001311131,0.002153008,0.0001158904,0.02315665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7005038,"threshold_uncertainty_score":0.9998866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005689973673845239,"score_gpt":0.2088603165187633,"score_spread":0.2031703428449181,"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."}}