{"id":"W3190477891","doi":"10.1007/s10048-021-00658-1","title":"A founder mutation in the GMPPB gene [c.1000G &gt; A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Ottawa Hospital; Children's Hospital of Eastern Ontario","funders":"Medical Research Council; Canadian Institutes of Health Research; Council of Scientific and Industrial Research, India; Ataxia UK; Wellcome Trust","keywords":"Limb-girdle muscular dystrophy; Muscular dystrophy; Congenital myasthenic syndrome; Medicine; Proximal muscle weakness; Hypoplasia; Compound heterozygosity; Repetitive nerve stimulation; Muscle biopsy; Anatomy; Internal medicine; Mutation; Genetics; Biology; Biopsy; Myasthenia gravis","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":[0.0001793658,0.0002926787,0.0004805883,0.0003054225,0.0000590605,0.00004037653,0.0002201277,0.0001630904,0.00005004845],"category_scores_gemma":[0.0001348158,0.0002396222,0.000217568,0.0008158367,0.00009667019,0.00006097008,0.00009438142,0.0003242232,0.00002265881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000705313,"about_ca_system_score_gemma":0.0002220152,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005687192,"about_ca_topic_score_gemma":0.000384999,"domain_scores_codex":[0.9975601,0.0001887819,0.0006749969,0.0004530326,0.0006563952,0.0004666983],"domain_scores_gemma":[0.998775,0.00008461427,0.0001770561,0.0006388273,0.0001926737,0.0001318047],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006744284,0.0044816,0.9099883,0.0007328385,0.0004830884,0.01264653,0.03966543,0.000484312,0.02461859,0.0002827367,0.00003188066,0.005910242],"study_design_scores_gemma":[0.005597949,0.001937969,0.9790285,0.0001449692,0.0002540141,0.001090955,0.001306624,0.00046943,0.009240663,0.0003620836,0.0002410843,0.0003257093],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980747,0.0006757381,0.00003030849,0.0001405703,0.000136255,0.0007753124,0.00006396758,0.00001803842,0.00008517304],"genre_scores_gemma":[0.9986786,0.00006842821,0.0004633211,0.0004611129,0.00005028896,0.00005712777,0.0001134331,0.00006381387,0.00004382789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06904022,"threshold_uncertainty_score":0.977151,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0149741005772809,"score_gpt":0.2339776625087642,"score_spread":0.2190035619314833,"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."}}