{"id":"W2954241695","doi":"10.2147/tacg.s187481","title":"<p>Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy</p>","year":2019,"lang":"en","type":"article","venue":"The Application of Clinical Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":66,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; Muscular Dystrophy Canada; Children's Health Research Institute; Women and Children's Health Research Institute; Ministry of Advanced Education, Government of Alberta; Alberta Innovates - Health Solutions","keywords":"Congenital muscular dystrophy; Laminin; Medicine; Muscular dystrophy; Skeletal muscle; Cardiac muscle; Dystroglycan; ITGA7; Pathology; Extracellular matrix; Internal medicine; Endocrinology; Biology; Genetics","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":[],"consensus_categories":[],"category_scores_codex":[0.0003340848,0.0001372148,0.0003460548,0.00003034419,0.00003309773,0.000003699717,0.0001170394,0.000165826,0.000003504536],"category_scores_gemma":[0.00003608628,0.0001078518,0.0001143781,0.00006623468,0.0004296828,0.000001830982,0.00009934992,0.00006397685,0.000002391043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009610618,"about_ca_system_score_gemma":0.00004203295,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000334838,"about_ca_topic_score_gemma":0.00001641426,"domain_scores_codex":[0.9987404,0.0001666921,0.0004834792,0.0003560567,0.00009332064,0.0001600087],"domain_scores_gemma":[0.9991285,0.0001272904,0.0002189187,0.0004255413,0.00004558355,0.000054123],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003199759,0.0007158158,0.03908153,0.00007798932,0.0001646404,5.267295e-7,0.0003192854,0.0002647601,0.8078191,0.007657709,0.0000278968,0.1435508],"study_design_scores_gemma":[0.004596748,0.004508354,0.9309661,0.0000224592,0.0002164969,0.000004685863,0.0005305833,0.002134407,0.01501794,0.002560792,0.03895944,0.0004819821],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924647,0.005804599,0.0008039046,0.00007923779,0.0001066925,0.000490176,0.00003195207,0.000003492587,0.000215282],"genre_scores_gemma":[0.993059,0.006580343,0.0001577938,0.00002643883,0.00006266049,0.00003559322,0.0000500334,0.00001161522,0.0000165128],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8918846,"threshold_uncertainty_score":0.4398068,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0299985188059055,"score_gpt":0.3135116482813559,"score_spread":0.2835131294754504,"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."}}