All individuals with variants in gene DES

355 entries on 4 pages. Showing entries 1 - 100.
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00053148 - PubMed: Brodehl 2013 4-generation family, 15 affecteds - no United States - - 0 - - CM - 1 15 Andreas Brodehl
00053149 - PubMed: Klauke 2010 - F no Germany Caucasian - 0 - - ARVD/C arrhythmogenic right ventricular cardiomyopathy (task force criteria), terminal heart failure; aggresome formation in cardiac (esp. right ventricle) and skeletal muscle, no overt clinical myopathy; heart transplant 17y and 21y 1 1 Andreas Brodehl
00053150 - PubMed: Brodehl 2013 5-generation family, 5 affecteds - no - (not applicable) - - 0 - - ARVD/C palpitations, borderline arrhythmogenic right ventricular cardiomyopathy; no peripheral muscular involvement 1 5 Andreas Brodehl
00064076 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064087 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064114 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00065233 - Balci-Hayta ESHG2016 P10.21 family, 2 affecteds ? yes Turkey - - 0 - - LGMD-2 atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres 1 2 Johan den Dunnen
00072158 26724190-PatIII2 PubMed: Brodehl 2015, Journal: Brodehl 2015 4-generation family, 3 affected (3M) M no Germany Caucasian >48y 0 - - CMD-1I biventricular dilatation (HP:0001713), sick sinus syndrome (HP:0011704), no skeletal muscle atrophy (HP:0003202), muscle weakness (HP:0001324), heart transplantation; 2 maternal cousins died due to sudden cardiac deaths (SCD) 1 3 Pieter Klap
00072159 FamilyA PubMed: Otten 2010, Journal: Otten 2010 2-generation family, 2 affected (2M) M - Netherlands - >46y 0 - - ARVC Lower limb muscle weakness (HP:0007340), palpitations (HP:001962), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), sinus arrests, ventricular extrasystoles (HP:0006682), hypokinesia (HP:0002375), akinesia (HP:0002304), dilated left ventricle (HP:0001711), 1 2 Pieter Klap
00072161 FamilyB PubMed: Otten 2010, Journal: Otten 2010 2-generation family, 2 affected (F, M) F - Netherlands - 28y 0 - - ARVC atrioventricular block (HP:0001678), fatigue (HP:0012378), increased diameter of the left atrium (HP:0005120), increased diameter of the right ventricle (HP:0001707), slow ventricular escape rhythm (HP:0005155) 1 2 Pieter Klap
00072164 23815709 III-1 PubMed: McLaughlin 2013, Journal: McLaughlin 2013 - F - - - >27y 0 - - ? inability to walk (HP:0002540), mild ptosis (HP:0000508), significant limitation of extraocular motility (HP:0000496), no retinopathy (HP:0000488), dextroscoliosis (HP:0002650), ankle contractures (HP:0006466), elbow contractures (HP:0002987), joint contractures of the hand (HP:0009473), cardiomyopathy (HP:0001638) 2 1 Pieter Klap
00072172 19879535 A-VI-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Cause of death: progressive right ventricle failure F - - 58y - - - - ? Palpitations (HP:0001962), complete atrioventricular block (HP:0001678), Dilated cardiomyopathy (HP:0001644), Hypertrophic cardiomyopathy (HP:0001639), Atrial fibrillation (HP:0005110), nonsustained ventricular tachycardia (HP:0004756) 1 2 Pieter Klap
00072178 19879535 A-VI-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >52y - - - ? Right bundle branch block (HP:0011712), Left bundle branch block (HP:0011713), low-voltage ECG (HP:0011675), premature ventricular beat (HP:0004308), left atrial enlargement (HP:0005120), Mild proximal myopathy legs (HP:0003797), Hypertension (HP:0000822), palpitations (HP:0001962), 1 1 Pieter Klap
00072183 19879535 A-VI-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >43y - - - ? Congestive heart failure (HP:0001635), Right bundle branch block (HP:0011712), low-voltage ECG (HP:0011675), Atrial fibrillation (HP:0005110), Tricuspid regurgitation (HP:0005180), mild polyneuropathy (HP:0001271), Endocardial fibrosis (HP:0006685), arrhythmogenic right ventricular cardiomyopathy (HP:0011663), Lymphoma (HP:0002665) 1 3 Pieter Klap
00072189 19879535 A-VI-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >37y - - - ? Ventricular tachycardia (HP:0004756), Left bundle branch block (HP:0011713), low-voltage ECG (HP:0011675), implantable cardioverter-defibrillator 1 1 Pieter Klap
00072192 19879535 A-VII-3 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072172 M - - - >28y - - - ? Exercise related palpitations (HP:0001962), Repolarization abnormality (HP:0011675), premature ventricular beat (HP:0004308), Left bundle branch block (HP:0011713), ventricular tachycardia (HP:0004756), implantable cardioverter-defibrillator 1 1 Pieter Klap
00072201 19879535 A-VII-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >18y - - - ? Repolarization abnormality (HP:0011675), Right bundle branch block (HP:0011712), premature ventricular beat (HP:0004308), left ventricular hypertrophy (HP:0001712), palpitations (HP:0001962) 1 1 Pieter Klap
00072202 19879535 A-VII-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >15y - - - ? Repolarization abnormality (ECG) (HP:0011675), Epsilon wave (ECG) (HP:0011675), Right bundle branch block (HP:0011712), ventricular tachycardia (HP:0004756), diastolic dysfunction (HP:0011025), implantable cardioverter-defibrillator 1 1 Pieter Klap
00072204 19879535 B-VI-9 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - 51y - - - ? Palpitations (HP:0001962), unspecified cardiomyopathy (HP:0001638), premature ventricular beat (HP:0004308), Atrial fibrillation (HP:0005110), Right ventricular congestive heart failure (HP:0001635), Limb-girdle muscular dystrophy (HP:0006785), Elevated serum creatine phosphokinase (HP:0003236), Endocardial fibrosis (HP:0006685), 1 1 Pieter Klap
00072205 19879535 B-VII-6 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >35y - - - ? atrioventricular block (HP:0001678), pace maker, mild left ventricular hypertrophy (HP:0001712), diastolic left ventricle dysfunction (HP:0001711), 1 1 Pieter Klap
00072207 19879535 B-VII-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >37y - - - ? atrioventricular block (HP:0001678), pace maker, diastolic left ventricle dysfunction (HP:0001711), Elevated serum creatine phosphokinase (HP:0003236), 1 1 Pieter Klap
00072209 19879535 C-VII-8 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >49y - - - ? aspecific intraventricular conduction delay, Second degree atrioventricular block (HP:0011706), Left anterior fascicular block (HP:0011711), nonsustained ventricular tachycardia (HP:0004756), Right bundle branch block (HP:0011712), Dilated cardiomyopathy (HP:0001644), Left ventricular noncompaction (HP:0030682), implantable cardioverter-defibrillator 1 1 Pieter Klap
00072210 19879535 C-VII-10 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >40y - - - ? premature ventricular beat (HP:0004308), Distal myopathy (HP:0003198), complete atrioventricular block (HP:0001678), pacemaker, Dilated cardiomyopathy (HP:0001644), Elevated serum creatine phosphokinase (HP:0003236), Endocardial fibrosis (HP:0006685), 1 1 Pieter Klap
00072211 19879535 C-VIII-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Father had a sudden cardiac death at age 40. M - - - >21y - - - ? Right bundle branch block (HP:0011712), 1 1 Pieter Klap
00072213 19879535 D-II-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >63y - - - ? Arrhythmia (HP:0011675), premature ventricular beat (HP:0004308), left anterior fascicular hemiblock (HP:0011711), Right bundle branch block (HP:0011712), atrial fibrillation (HP:0005110), first degree atrioventricular block (HP:0011705), Palpitations (HP:0001962), dilated cardiomyopathy (HP:0001644), Muscular weakness (HP:0001324), limb-girdle muscular dystrophy (HP:0006785), elevate serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), implantable cardioverter-defibrillator, coronary artery disease (HP:0001677) 1 1 Pieter Klap
00072214 19879535 D-III-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >34y - - - ? Right bundle branch block (HP:0011712) 1 1 Pieter Klap
00072215 19879535 D-III-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >41y - - - ? Arrhythmia (HP:0011675), Right bundle branch block (HP:0011712), complete atrioventricular block (HP:0001678), pacemaker, left ventricular hypertrophy (HP:0001712) 1 1 Pieter Klap
00072216 19879535 E-I-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >62y - - - ? Muscular weakness (HP:0001324), incomplete right bundle branch block (HP:0011712), Unspecified distal myopathy (HP:0003198), 1 1 Pieter Klap
00072217 19879535 E-II-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >39y - - - ? Muscular weakness (HP:0001324), complete atrioventricular block (HP:0001678), Pacemaker, elevate serum creatine phosphokinase (HP:0003236), 1 1 Pieter Klap
00072222 FamF-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch 43y 0 - - ? Arrhythmia (HP:0011675), atrioventricular block (HP:0001678), right bundle branch block (HP:0011712), atrial flutter (HP:0004749), dilated cardiomyopathy (HP:0001644), severe left ventricle dysfunction (HP:0001711), severe right ventricle dysfunction (HP:0001707), muscular weakness (HP:0001324), pacemaker, Congestive heart failure (HP:0001635) 1 1 Pieter Klap
00072224 FamG-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch >52y 0 - - ? sick sinus syndrome (HP:0011704), non-sustained ventricular tachycardia (HP:0004756), premature ventricular contraction (HP:0004308), right bundle branch block (HP:0011712), Left anterior fascicular block (HP:0011711), First degree atrioventricular block (HP:0011705), Second degree atrioventricular block (HP:0011706), complete atrioventricular block (HP:0001678), dilated cardiomyopathy (HP:0001644), moderate left ventricle dysfunction (HP:0001711), severe right ventricle dysfunction (HP:0001707), pacemaker, implantable cardioverter defibrillator 1 1 Pieter Klap
00072227 FamH-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >40y 0 - - ? complete atrioventricular block (HP:0001678), mild left ventricle dysfunction (HP:0001711), pacemaker, implantable cardioverter defibrillator 1 1 Pieter Klap
00072228 FamO-IV-2 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 5-generation family, 14 affected (10F, 4M) F - Netherlands Dutch >45y 0 - - ? Muscle weakness (HP:0001324), right bundle branch block (HP:0011712), bulbar (HP:0002483), Neck flexor weakness (HP:0003722), 1 14 Pieter Klap
00072229 FamO-III-12 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >63y 0 - - ? Muscle weakness (HP:0001324), Repolarisation abnormality (HP:0011675), Left ventricular hypertrophy (HP:0001712), Scoliosis (HP:0002650), Scapuloperoneal myopathy (HP:0009054) 1 1 Pieter Klap
00072235 FamO-III-14 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch 54y 0 - - ? Muscle weakness (HP:0001324), Repolarisation abnormality (HP:0011675), atrial arrhythmia (HP:0001692), Right bundle branch block (HP:0011712), Bulbar signs (HP:0002483), 1 1 Pieter Klap
00072237 FamO-III-15 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >51y 0 - - ? Muscle weakness (HP:0001324), Primary atrial arrhythmia (HP:0001692), Repolarisation abnormality (HP:0011675), right bundle branch block (HP:0011712), Left anterior fascicular block (HP:0011711), slight left atrium enlargement (HP:0005120), 1 1 Pieter Klap
00072238 FamO-IV-9 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >35y 0 - - ? Muscle weakness (HP:0001324), bulbar (HP:0002483), Neck flexor weakness (HP:0003722), Scapuloperoneal myopathy (HP:0009054) 1 1 Pieter Klap
00072239 FamU-III-14 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 4-generation family, 19 affected (11F, 8M) F - Netherlands Dutch 44y 0 - - ? Left anterior fascicular block (HP:0011711), peroneal myopathy (HP:0001430), 1 19 Pieter Klap
00072240 FamU-III-15 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch 53y 0 - - ? Repolarisation abnormality (HP:0011675), Scapuloperoneal myopathy (HP:0009054), 1 1 Pieter Klap
00072241 FamU-III-17 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch 38y 0 - - ? Muscle weakness (HP:0001324), Ventricular extrasystoles (HP:0006682), Ventricular arrhythmia (HP:0004308), non-sustained ventricular tachycardia (HP:0004756), Repolarisation abnormality (HP:0011675), peroneal myopathy (HP:0001430), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00072259 FamU-IV-5 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch 41y 0 - - ? ilio-peroneal myopathy (HP:0001430), Neck flexor weakness (HP:0003722), palpitations (HP:0001962), Exertional dyspnea (HP:0002875) 1 1 Pieter Klap
00072261 FamU-IV-9 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >29y 0 - - ? scapulo-ilio-peroneal myopathy (HP:0009054), 1 1 Pieter Klap
00072266 22153487 F1-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 family, 3 carriers M - (France) - >54y 0 - - ? Elevated serum creatine phosphokinase (HP:0003236), Bifascicular block (HP:0011710), 1 3 Pieter Klap
00072267 22153487 F2-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >33y - - - ? palpitations (HP:0001962), Bifascicular block (HP:0011710) 1 1 Pieter Klap
00072270 22153487 F2-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >50y - - Pacemaker ? Vertigo (HP:0002321), palpitations (HP:0001962), Bifascicular block (HP:0011710), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236), 1 1 Pieter Klap
00072271 22153487 F2-3 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >71y - - pacemaker ? Vertigo (HP:0002321), palpitations (HP:0001962), Trifascicular block (HP:0011715), Hypertrophic cardiomyopathy (HP:0001639), 1 1 Pieter Klap
00072272 22153487 F3-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >33y - - Pacemaker ? Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709) 1 1 Pieter Klap
00072273 22153487 F3-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >27y - - Pacemaker ? Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709) 1 1 Pieter Klap
00072274 22153487 F4-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >38y - - Pacemaker ? Third degree atrioventricular block (HP:0001709), Dyspnea (HP:0002094), Trifascicular block (HP:0011715), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00072275 22153487 F5-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >36y - - Pacemaker ? Paced rhythm (HP:0011675), Third degree atrioventricular block (HP:0001709) 1 1 Pieter Klap
00072276 22153487 F6-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >44y - - - ? Elevated serum creatine phosphokinase (HP:0003236), Ventricular tachycardia (HP:0004756), Dyspnea (HP:0002094), Left bundle branch block (HP:0011713), Dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), 1 1 Pieter Klap
00072277 22153487 F6-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >74y - - - ? Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707) 1 1 Pieter Klap
00072278 22153487 F7-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >25y - - - ? Congestive heart failure (HP:0001635), Dyspnea (HP:0002094), Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236), Reduced ejection fraction (HP:0012664) 1 1 Pieter Klap
00072279 22153487 F8-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >33y - - Pacemaker ? Third degree atrioventricular block (HP:0001709), Paced rhythm (HP:0011675), Hypertrophic cardiomyopathy (HP:0001639), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00072280 22153487 F8-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >09y - - - ? Palpitations (HP:0001962), Right bundle branch block (HP:0011712), Atrial flutter (HP:0004749), 1 1 Pieter Klap
00072282 22153487 F9-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >31y - - Pacemaker ? Elevated serum creatine phosphokinase (HP:0003236), Third degree atrioventricular block (HP:0001709), Paced rhythm (HP:0011675), Atrial fibrillation (HP:0005110) 1 1 Pieter Klap
00072287 22153487 F10-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >54y - - - ? Atrial fibrillation (HP:0005110), Trifascicular block (HP:0011715), Abnormality of the right ventricle (HP:0001707), Elevated serum creatine phosphokinase (HP:0003236), 1 1 Pieter Klap
00072288 22153487 F10-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >28y - - - ? Right bundle branch block (HP:0011712), 1 1 Pieter Klap
00072289 22153487 F11-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >49y - - - ? Elevated serum creatine phosphokinase (HP:0003236), Palpitations (HP:0001962), Bifascicular block (HP:0011710), Hypertrophic cardiomyopathy (HP:0001639) 1 1 Pieter Klap
00072290 22153487 F12-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >44y - - - ? Left posterior fascicular block (HP:0005172), Hypertrophic cardiomyopathy (HP:0001639), Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00072291 22153487 F13-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >44y - - - ? Left bundle branch block (HP:0011713), 1 1 Pieter Klap
00072292 22153487 F13-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >27y - - - ? Elevated serum creatine phosphokinase (HP:0003236) 1 1 Pieter Klap
00072293 22153487 F13-3 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >36y - - - ? Elevated serum creatine phosphokinase (HP:0003236), Palpitations (HP:0001962), Right bundle branch block (HP:0011712), 1 1 Pieter Klap
00072294 22153487 F14-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >48y - - Pacemaker ? Elevated serum creatine phosphokinase (HP:0003236), Vertigo (HP:0002321), First degree atrioventricular block (HP:0011705), Sinuspauses (HP:0011675), 1 1 Pieter Klap
00072295 22153487 F15-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >29y - - Pacemaker ? Palpitations (HP:0001962), Vertigo (HP:0002321), Trifascicular block (HP:0011715), Hypertrophic cardiomyopathy (HP:0001639) 1 1 Pieter Klap
00072296 22153487 F16-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >29y - - - ? Elevated serum creatine phosphokinase (HP:0003236), Bifascicular block (HP:0011710), Abnormality of the right ventricle (HP:0001707) 1 1 Pieter Klap
00072297 22153487 F17-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >27y - - implantable cardioverter defibrillator ? Elevated serum creatine phosphokinase (HP:0003236), Atrial fibrillation (HP:0005110), Third degree atrioventricular block (HP:0001709), Supraventricular tachycardia (HP:0004755), Dyspnea (HP:0002094), syncope (HP:0001279), Atrial fibrillation (HP:0005110), paced rhythm (HP:0011675), Congestive heart failure (HP:0001635), Restrictive cardiomyopathy (HP:0001723), Reduced ejection fraction (HP:0012664), Abnormality of the right ventricle (HP:0001707) 1 1 Pieter Klap
00072298 22153487 F18-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - F - (France) - >30y - - - ? Vertigo (HP:0002321), palpitations (HP:0001962), Left anterior fascicular block (HP:0011711), 1 1 Pieter Klap
00072299 22153487 F18-2 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >16y - - - ? Left bundle branch block (HP:0011713), Hypertrophic cardiomyopathy (HP:0001639) 1 1 Pieter Klap
00072300 22153487 F19-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >33y - - - ? Elevated serum creatine phosphokinase (HP:0003236), Right bundle branch block (HP:0011712) 1 1 Pieter Klap
00072339 25557463 F1-III-1 PubMed: Weihl 2015, Journal: Weihl 2015 3-generation family, 6 affected (2F, 4M) M - United States - >40y 0 - - ? Congestive heart failure (HP:0001635), Hypokinesia (HP:0002375), Reduced ejection fraction (HP:0012664), Third degree atrioventricular block (HP:0001709), biatrial enlargement (HP:0011675), Elevated serum creatine phosphokinase (HP:0003236), 1 6 Pieter Klap
00072340 25557463 F2-III-3 PubMed: Weihl 2015, Journal: Weihl 2015 3-generation family, 3 affected (3M) M - United States - >63y 0 - - ? Type II diabetes mellitus (HP:0005978), Congestive heart failure (HP:0001635), dilated cardiomyopathy (HP:0001644), Reduced ejection fraction (HP:0012664), Elevated serum creatine phosphokinase (HP:0003236), 1 3 Pieter Klap
00072341 25557463 F2-II-1 PubMed: Weihl 2015, Journal: Weihl 2015 2-generation family, 3 affected (2F, M) F - United States Caucasian >33y 0 - implantable cardioverter defibrillator ? dilated cardiomyopathy (HP:0001644), mild Neck flexor weakness (HP:0003722), Dysphagia (HP:0002015) 1 1 Pieter Klap
00072344 FamPatIII-1 PubMed: McCormick 2015, Journal: McCormick 2015 4-generation family, 5 affected (3F, 2M) M - United States Caucasian >45y 0 - Pacemaker ? atrial flutter (HP:0004749), right hypertrophic cardiomyopathy (HP:0001639), congestive heart failure (HP:0001635), Lower limb muscle weakness (HP:00073400), distal myopathy (HP:0003198), short stature (HP:0004322), progressive photophobia (HP:0000613), hoarse voice (HP:0001609), gastroesophageal reflux (HP:0002020), Dysphagia (HP:0002015), progressive truncal obesity (HP:0001956), intermittent depression (HP:0000716), Unconjugated hyperbilirubinemia (HP:0008282), Elevated serum creatine phosphokinase (HP:0003236), 1 5 Pieter Klap
00072349 FamDP-III-3 PubMed: Fichna 2014, Journal: Fichna 2014 2-generation family, 2 affected (F, M) M - (Poland) Caucasian >24y 0 - - ? Distal lower limb amyotrophy (HP:0008944), Lower limb muscle weakness (HP:0007340), Exercise-induced muscle cramps (HP:0003710), Hyporeflexia of lower limbs (HP:0002600), Elevated serum creatine phosphokinase (HP:0003236), 1 2 Pieter Klap
00072350 FamZP-IV-2 PubMed: Fichna 2014, Journal: Fichna 2014 5-generation family, 8 affected (4F, 4M) F - Poland - - 0 - - ? High, narrow palate (HP:0002705), left thenar muscle atrophy (HP:0003393), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities of the right biceps and right vastus lateralis muscles (HP:0003458), 1 8 Pieter Klap
00072351 FamKP-IV-44 PubMed: Fichna 2014, Journal: Fichna 2014 6-generation family, 11 affected (6F, 5M) F - Poland - >49y 0 - - ? Proximal muscle weakness in lower limbs (HP:0008994), Skeletal muscle atrophy (HP:0003202), Exertional dyspnea (HP:0002875), Areflexia of lower limbs (HP:0002522), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities of the biceps first dorsal interosseous, vastus lateralis and tibialis anterior muscles (HP:0003458) 1 11 Pieter Klap
00072354 20636320 pt1 PubMed: Sung 2011, Journal: Sung 2011 - F - Mongolia - >36y - - - ? Premature rupture of membranes (HP:0001788), Caesarian section (HP:0011410), Congestive heart failure (HP:0001635), Prolonged QTc interval (HP:0005184), Exertional dyspnea (HP:0002875), 1 1 Pieter Klap
00073109 Fam3Pat8/IV:2 PubMed: Walter 2007, Journal: Walter 2007 4-generation family, 5 affected (F, 4M) M yes Germany - >48y 0 - - SCPNK Distal muscle weakness (HP:0002460), mild dysphagia (HP:0002015), Gynecomastia (HP:0000771), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy with neurogenic-like changes (HP:0003198), 1 5 Pieter Klap
00073110 Pam5Pat14/IV:3 PubMed: Walter 2007, Journal: Walter 2007 5-generation family, 5 affected (3F, 2M) F - Germany - >33y 0 - - SCPNK Myalgia (HP:0003326), Difficulty climbing stairs (HP:0003551), Limb-girdle muscular dystrophy (HP:0006785), Lower limb muscle weakness (HP:0007340), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458) 1 5 Pieter Klap
00073112 Fam5Pat15/III:2 PubMed: Walter 2007, Journal: Walter 2007 Pat15/III:2 F - Germany - >64y 0 - - SCPNK Proximal muscle weakness in lower limbs (HP:0008994), Limb-girdle muscular dystrophy (HP:0006785), Arrhythmia (HP:0011675), Respiratory insufficiency (HP:0002093), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy (HP:0003198) 1 1 Pieter Klap
00073119 15800015 II.3 PubMed: Bär 2005, Journal: Bär 2005 - M - Germany Caucasian >55y - - - ? Exertional dyspnea (HP:0002875), Diaphragmatic paralysis (HP:0006597), Nocturnal hypoventilation (HP:0002877), Proximal muscle weakness in upper limbs (HP:0008997), Shoulder girdle muscle weakness (HP:0003547), Pelvic girdle muscle weakness (HP:0003749), Proximal muscle weakness in lower limbs (HP:0008994), Restrictive lung disease (HP:0002091), Left ventricular hypertrophy (HP:0001712), First degree atrioventricular block (HP:0011705), Ventricular arrhythmia (HP:0004308), 1 1 Pieter Klap
00073127 FamPatIII-1 PubMed: Arias 2006, Journal: Arias 2006 3-generation family, 8 affected (4F, 4M) F - Spain - >45y 0 - - ? Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Supraventricular arrhythmia (HP:0005115), EMG: myopathic abnormalities (HP:0003458), Elevated serum creatine phosphokinase (HP:0003236), 1 8 Pieter Klap
00073128 FamPatIII-2 PubMed: Arias 2006, Journal: Arias 2006 PatIII-2 M - Spain - >43y 0 - - ? Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), Supraventricular arrhythmia (HP:0005115), dilated cardiomyopathy (HP:0001644), Stroke (HP:0001297), EMG: myopathic abnormalities (HP:0003458), 1 1 Pieter Klap
00073129 FamPatIII-7 PubMed: Arias 2006, Journal: Arias 2006 PatIII-7 F - Spain - >46y 0 - - ? Distal muscle weakness (HP:0002460), Proximal muscle weakness (HP:0003701), Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), normal echocardiogram (-HP:0003116), EMG: myopathic abnormalities (HP:0003458) 1 1 Pieter Klap
00073130 FamPatIV-1 PubMed: Arias 2006, Journal: Arias 2006 PatIV-1 ? - Spain - - 0 - - ? Distal muscle weakness (HP:0002460), Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), normal echocardiogram (-HP:0003116), EMG: myopathic abnormalities (HP:0003458) 1 1 Pieter Klap
00073132 FamPatIV-3 PubMed: Arias 2006, Journal: Arias 2006 PatIV-3 ? - Spain - - 0 - - ? Elevated serum creatine phosphokinase (HP:0003236), normal ECG-H (-HP:0011675), mild hypertrophic cardiomyopathy (HP:0001639), 1 1 Pieter Klap
00073732 - Journal: Fatkin 2016 - F - - - - 0 - - CDA LVEF 0.36, skeletal myopathy (HP:0003756), implantable cardioverter-defibrillator 2 1 Johan den Dunnen
00128372 50 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00128385 82 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00128487 284 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00163899 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - M - Netherlands Sub-Saharan African - 0 yes implantable cardiac defibrillator CM atrial fibrillation (HP:0005110), paroxysmal ventricular tachycardia (HP:0004751), first degree atrioventricular block (HP:0011705) 1 1 Judith Verhagen
00207987 23687351-FamPII4 PubMed: Cetin 2013 brother M yes Turkey - >39y 0 - - LGMD progressive muscle weakness; mild facial muscle weakness; normal CPK (-HP:0003236), no intellectual disability (-HP:0001249); 33y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00207988 23687351-FamPII2 PubMed: Cetin 2013 2-generation family, 2 affected, unaffected carrier parents and brother F yes Turkey - >45y 0 - - LGMD normal CPK (-HP:0003236) 1 3 Johan den Dunnen
00207989 Fam1-I.3 PubMed: Dalakas 2000 mother of Fam1-I.4 F - Canada Ireland;Germany - 0 - - MYOP slowly progressive myopathy; normal CPK (-HP:0003236); 45y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00207990 ? PubMed: Taylor 2007 - - - United States - - 0 - - ? 6 unrelated subjects 1 6 Johan den Dunnen
00207991 ? PubMed: Taylor 2007 - - - United States - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00207992 - PubMed: Goldfarb 1998, PubMed: Dalakas 2000 affects son CMS1 M - United States - - 0 - - MYOP adult onset skeletal myopathy, mild cardiac involvement 1 1 Johan den Dunnen
00207993 - PubMed: Goldfarb 1998, PubMed: Dalakas 2000 affected daugther CMS1 F - United States - - 0 - - MYOP adult onset skeletal myopathy, mild cardiac involvement 1 1 Johan den Dunnen
00207994 - PubMed: Goldfarb 1998, PubMed: Dalakas 2000 affected father CMS1 M - United States - - 0 - - MYOP adult onset skeletal myopathy, mild cardiac involvement 1 1 Johan den Dunnen
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