{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009844284,0.0008252246,0.0004146864,0.0004908574,0.0005081725,0.0002590145,0.0003219754,0.00126986,0.004819362],"category_scores_gemma":[0.0005834672,0.0001753051,0.0002995452,0.0003760925,0.0005651189,0.0002391885,0.0003216143,0.0006468318,0.001008621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002927741,"about_ca_system_score_gemma":0.0002948908,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00193066,"about_ca_topic_score_gemma":0.00151881,"domain_scores_codex":[0.999877,0.00001498209,0.0000104961,0.00004515785,0.000020693,0.00003158066],"domain_scores_gemma":[0.9997494,0.00005774814,0.00007485812,0.00001481919,0.0000217304,0.00008158726],"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":[0.0002160764,0.00005249153,0.01262699,0.0001024083,0.00002972661,0.954769,0.0001514562,0.0002141774,0.02660397,0.0006254169,0.001501744,0.003106589],"study_design_scores_gemma":[0.00009984036,0.0002181373,0.0520314,0.00003983632,0.00006231546,0.9395519,0.0001137313,0.0008027975,0.004049839,0.0006166149,0.002385305,0.00002825817],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.984355,0.001070491,0.001378655,0.001780316,0.0002084078,0.00007480232,0.0005968663,0.0001644491,0.01037106],"genre_scores_gemma":[0.9968858,0.0002044852,0.0004031389,0.0002391886,0.0001058821,0.00001268034,0.0001291698,0.00001782361,0.002001871],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004819362,"threshold_uncertainty_score":0.0161224,"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."}}