{"id":"W3005746464","doi":"10.3389/fneur.2020.00077","title":"Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A","year":2020,"lang":"en","type":"article","venue":"Frontiers in Neurology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Research Foundation; National Institute of General Medical Sciences; Ontario Genomics Institute","keywords":"Myotonia; Periodic paralysis; Channelopathy; Hypotonia; Myopathy; Medicine; Congenital myopathy; Arthrogryposis; Internal medicine; Muscle Hypotonia; Myotonia congenita; Congenital myasthenic syndrome; Genetics; Skeletal muscle; Endocrinology; Muscle biopsy; Mutation; Paralysis; Biology; Anatomy; Myotonic dystrophy; Gene; Surgery","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":[0.000162128,0.002413194,0.000517096,0.00127672,0.0009734789,0.0003912846,0.0006820773,0.001353845,0.002658763],"category_scores_gemma":[0.0008782319,0.0003457601,0.0004899437,0.0007179549,0.0009278791,0.0003046464,0.0009199932,0.0008150261,0.0006830944],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000441739,"about_ca_system_score_gemma":0.0006543469,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002053855,"about_ca_topic_score_gemma":0.002774584,"domain_scores_codex":[0.9996535,0.00003168612,0.00003809473,0.0001344637,0.00008298537,0.00005933236],"domain_scores_gemma":[0.999703,0.00005159493,0.00008442832,0.00002055039,0.00002409226,0.0001163631],"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":[0.00005005355,0.0000380293,0.008575252,0.00005754429,0.00002101923,0.9755662,0.0001153906,0.0001277459,0.01116204,0.000306528,0.0004193145,0.003560847],"study_design_scores_gemma":[0.00001567171,0.00008504183,0.01712215,0.000009162681,0.00001949401,0.9802194,0.00002319741,0.0001907483,0.001510247,0.0001362327,0.0006622695,0.000006365497],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9806244,0.001686792,0.003202018,0.0008156573,0.0002393157,0.0001442977,0.0006635953,0.0002774761,0.01234646],"genre_scores_gemma":[0.9937209,0.0005815726,0.001119183,0.0003487398,0.000256274,0.00003046853,0.0002333749,0.00003895417,0.003670665],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002658763,"threshold_uncertainty_score":0.008894444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00689431490375914,"score_gpt":0.1808441130107888,"score_spread":0.1739497981070297,"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."}}