{"id":"W4414823695","doi":"10.1016/j.nmd.2025.105702","title":"155PDistal axonal neuropathy as the initial presentation in COL6A-related myopathies: a case series","year":2025,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Cell Adhesion Molecules Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"","keywords":"Missense mutation; Phenotype; Muscle contracture; Peripheral neuropathy; Presentation (obstetrics); Genetic testing; Ankle; Frameshift mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000359215,0.002711187,0.001406557,0.002275219,0.002532715,0.002069397,0.001226784,0.004503821,0.003687989],"category_scores_gemma":[0.002545026,0.001274152,0.001253416,0.00137004,0.001878746,0.002482417,0.001918243,0.002236542,0.001503433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001211608,"about_ca_system_score_gemma":0.0006683831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001362434,"about_ca_topic_score_gemma":0.001610041,"domain_scores_codex":[0.9993384,0.0000730213,0.00009568,0.0001709401,0.00009134308,0.0002304761],"domain_scores_gemma":[0.9986647,0.0004369125,0.0002903466,0.0001355931,0.0001027272,0.0003697047],"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":[0.00002230934,0.000023405,0.004094794,0.00002714906,0.000006925264,0.9944884,0.00006989742,0.00003508183,0.0003951742,0.00005161305,0.0001320549,0.000653205],"study_design_scores_gemma":[0.000005824737,0.00002511723,0.002961043,0.00001288796,0.00001371697,0.9962663,0.00009278139,0.0001088402,0.0001939012,0.00006300089,0.0002487035,0.000007845751],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9729493,0.00882961,0.003859034,0.001428532,0.0004114776,0.0002489379,0.0003301545,0.0001512168,0.0117918],"genre_scores_gemma":[0.9939314,0.002165266,0.001129257,0.0004868745,0.0007541851,0.00004247476,0.0001328037,0.00003112538,0.001326595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004503821,"threshold_uncertainty_score":0.01233751,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0120208887588893,"score_gpt":0.3132407834026987,"score_spread":0.3012198946438094,"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."}}