{"id":"W4372283207","doi":"10.3233/jnd-230017","title":"MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)","year":2023,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Chronic progressive external ophthalmoplegia; Medicine; Myopathy; Ptosis; External ophthalmoplegia; Weakness; Kearns–Sayre syndrome; Proximal muscle weakness; Creatine kinase; Mitochondrial myopathy; Internal medicine; Anatomy; Muscle biopsy; Surgery; Biopsy; Mitochondrial DNA; Genetics; Biology","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":[0.000470465,0.000235193,0.0006758864,0.0002453541,0.0001239772,0.0000414492,0.000359212,0.00008415704,0.0002696689],"category_scores_gemma":[0.0007153758,0.0001483045,0.001238078,0.0005680103,0.0002368823,0.0001613621,0.0001279245,0.0004633698,0.0000360514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006237306,"about_ca_system_score_gemma":0.0005869616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004661552,"about_ca_topic_score_gemma":2.879621e-7,"domain_scores_codex":[0.9970826,0.0002716936,0.001110721,0.0002688242,0.0008784957,0.000387656],"domain_scores_gemma":[0.9975853,0.0002644947,0.0009226642,0.0004903891,0.0002433384,0.0004938166],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005998503,0.006139048,0.5624071,0.001761227,0.004026422,0.3279206,0.0007846248,0.001114224,0.03236395,0.0004322395,0.01317008,0.043882],"study_design_scores_gemma":[0.00485531,0.003268908,0.9741616,0.00115674,0.002668623,0.009542513,0.0003703025,0.0006649838,0.0008329676,0.000567025,0.001650173,0.0002609095],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9829681,0.01450016,0.00002850908,0.0008718072,0.001087215,0.000400436,0.00003478473,0.00004402591,0.00006495641],"genre_scores_gemma":[0.9972295,0.001272746,0.00002658497,0.0001355382,0.00111945,0.000008641856,0.00001321673,0.00005075114,0.0001436171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4117545,"threshold_uncertainty_score":0.6047681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02843257946395564,"score_gpt":0.3494435598297858,"score_spread":0.3210109803658301,"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."}}