docTabella 1: CardioScreen®- Cardiomiopatie Elenco dei geni
download 
Reclamo Transcript
Tabella 1: CardioScreen®- Cardiomiopatie Elenco dei geni
Tabella 1: CardioScreen®- Cardiomiopatie Elenco dei geni analizzati e della malattie genetiche investigate 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 MALATTIA PhenoMIM GENE Atrial fibrillation, familial, 12 614050 ABCC9 Atrial septal defect 5 612794 ACTC1 Dilated cardiomyopathy 1AA 612158 ACTN2 Ventricular tachycardia, catecholaminergic polymorphic, 2 611938 CASQ2 Cardiomyopathy, familial hypertrophic 192600 CAV3 Cardiomyopathy, dilated, 1II 615184 CRYAB Cardiomyopathy, dilated, 1M 607482 CSRP3 Cardiomyopathy, dilated, 1I 604765 DES Arrhythmogenic right ventricular dysplasia 11 610476 DSC2 Arrhythmogenic right ventricular dysplasia 10 610193 DSG2 Arrhythmogenic right ventricular dysplasia 8 607450 DSP Left ventricular noncompaction 1, with or without 604169 DTNA congenital heart defects Emery-Dreifuss muscular dystrophy 1, X-linked 310300 EMD Fabry disease, cardiac variant 301500 GLA Arrhythmogenic right ventricular dysplasia 12 611528 JUP Cardiomyopathy, dilated, 1JJ 615235 LAMA4 Danon disease 300257 LAMP2 Cardiomyopathy, dilated, 1C, with or without LVNC 601493 LDB3 Cardiomyopathy, dilated, 1A 115200 LMNA Cardiomyopathy, dilated, 1MM 615396 MYBPC3 Atrial septal defect 3 614089 MYH6 Cardiomyopathy, dilated, 1S 613426 MYH7 Cardiomyopathy, hypertrophic, 10 608758 MYL2 Cardiomyopathy, hypertrophic, 8 608751 MYL3 Cardiomyopathy, hypertrophic, 1, digenic 192600 MYLK2 Cardiomyopathy, hypertrophic, 16 613838 MYOZ2 Cardiomyopathy, dilated, 1CC 613122 NEXN Arrhythmogenic right ventricular dysplasia 9 609040 PKP2 Cardiomyopathy, dilated, 1P 609909 PLN Cardiomyopathy, hypertrophic 6 600858 PRKAG2 Cardiomyopathy, dilated, 1DD 613172 RBM20 Pag. 1 di 2 32 33 34 35 36 37 38 39 40 41 42 43 Arrhythmogenic right ventricular dysplasia 2 Cardiomyopathy, dilated, 1L Barth syndrome Cardiomyopathy, hypertrophic, 25 Arrhythmogenic right ventricular dysplasia 5 Cardiomyopathy, dilated, 1Z Cardiomyopathy, dilated, 2A Cardiomyopathy, dilated, 1D Cardiomyopathy, dilated, 1Y Cardiomyopathy, dilated, 1G Amyloidosis, hereditary, transthyretin-related Cardiomyopathy, dilated, 1W 600996 606685 302060 607487 604400 611879 611880 601494 611878 604145 105210 611407 RYR2 SGCD TAZ TCAP TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL Pag. 2 di 2
Documenti analoghi
sinagra 2015 - conoscere e curare il cuore 2007
Recentemente, lo studio ATLAS, che ha analizzato circa 80 geni associati alla CMPD mediante metodiche di next generation sequencing, ha confermato la sovrapposizione tra cardiomiopatie, identifican...
Harvard Medical School/Harvard School of Dental Medicine
Myocardial delayed enhancement and risk of sudden death in hypertrophic
cardiomyopathy
QRS duration and epsilon wave on surface electrocardiogram (ECG) are markers of
disease severity in patients w...
