All individuals with variants in gene LDB3

76 entries on 1 page. Showing entries 1 - 76.
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00016142 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands Caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00043789 - PubMed: Hertz 2015, Journal: Hertz 2015 - F ? Denmark African 00y00m 0 - - SIDS Not fulfilling criteria of SIDS due to missing information 1 1 Christin Hertz
00046334 - - - ? ? Israel Bedouin - 0 - - Healthy/Control - 1 105 Ruti Parvari
00064076 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064094 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064099 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064110 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00153282 23558691-Pat PubMed: Cai 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - MPD see paper; ... 1 1 Johan den Dunnen
00163858 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - ? - Netherlands - - - yes - CMH - 1 1 Judith Verhagen
00211437 15668942-Pat01 PubMed: Selcen 2005 - M - United States - >50y 0 - - MFM progressive weakness (proximal); peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs; CPK raised 4x 1 1 Johan den Dunnen
00211438 15668942-Pat02 PubMed: Selcen 2005 affected father, paternal grandfather M - United States - >57y 0 - - MFM progressive weakness (distal > proximal), muscle atrophy, decreased reflexes; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 6x 1 3 Johan den Dunnen
00211439 15668942-Pat03 PubMed: Selcen 2005 - M - United States - >61y 0 - - MFM progressive weakness (proximal and distal); no peripheral neuropathy; cardiac ow EF, but has coronary artery disease; EMG myopathic MUPs, fibrillation potentials; CPK normal 1 1 Johan den Dunnen
00211440 15668942-Pat04 PubMed: Selcen 2005 affected father and brother F - United States - >56y 0 - - MFM progressive weakness (distal > proximal); no peripheral neuropathy; cardiac paroxysmal supraventricular tachycardia; EMG myopathic MUPs, fibrillation potentials; CPK raised 2x 1 3 Johan den Dunnen
00211441 15668942-Pat05 PubMed: Selcen 2005 affected mother, 3 maternal uncles, 1 maternal aunt, maternal great grandmother, 2 sisters M - United States - >54y 0 - - MFM progressive weakness (distal > proximal); no peripheral neuropathy; cardiac unusual depolarization, early superior forces; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x 1 9 Johan den Dunnen
00211442 15668942-Pat06 PubMed: Selcen 2005 affected father, paternal uncle, paternal grandmother, cousin, 2 brothers M - United States - >69y 0 - - MFM progressive weakness (proximal > distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic andneurogenic MUPs, fibrillation potentials; CPK raised 1.2x 1 7 Johan den Dunnen
00211443 15668942-Pat07 PubMed: Selcen 2005 affected father M - United States - >45y 0 - - MFM heart palpitations (proximal); no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials; CPK raised 1.1x 1 2 Johan den Dunnen
00211444 15668942-Pat08 PubMed: Selcen 2005 affected father, paternal uncle M - United States - >58y 0 - - MFM progressive weakness (distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic and neurogenic MUPs, myotonic discharges; CPK normal 1 3 Johan den Dunnen
00211445 15668942-Pat09 PubMed: Selcen 2005 affected mother, sister M - United States - >64y 0 - - MFM progressive weakness (distal > proximal), tingling, numbness in the feet, muscle atrophy; peripheral neuropathy; cardiac RBBB, prolonged QT; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x 1 3 Johan den Dunnen
00211446 15668942-Pat10 PubMed: Selcen 2005 - F - United States - >66y 0 - - MFM progressive weakness (distal > proximal), muscle atrophy; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK normal 1 1 Johan den Dunnen
00211447 15668942-Pat11 PubMed: Selcen 2005 - M - United States - >78y 0 - - MFM progressive weakness (distal > proximal), distal sensory deficits,perivascular mononuclear cellsepineurium; peripheral neuropathy; no cardiac involvement; EMG severe polyradiculoneuropathy, neurogenic MUPs, fibrillation potentials; 1 1 Johan den Dunnen
00211448 - PubMed: Vatta 2003 affected father and brother F - United States - - 0 - - CMD - 1 3 Johan den Dunnen
00211449 - PubMed: Vatta 2003 affected mother, 2 brothers and nephew M - United States - >40y 0 - - CMD - 1 5 Johan den Dunnen
00211450 - PubMed: Vatta 2003 - M - United States Latin American >4y6m 0 - - CMD profound bradycardia, atrioventricular block, premature ventricular contractions, monomorphic ventricular tachycardia, depressed ventricular function with mild left ventricular dilation 1 1 Johan den Dunnen
00211451 - PubMed: Vatta 2003 - F - United States white >44y 0 - - CMD NYHA functional class III heart failure, left bundle branch block on surface electrocardiogram, reduced systolic function, dilated left ventricular (5.9cm), deep trabeculations, reduced metabolic exercise testing (max. oxygen consumption 58% predicted) 1 1 Johan den Dunnen
00211452 - PubMed: Vatta 2003 - M - United States white >33y 0 - - CMD left/right ventricular trabeculations (intraventricular conduction delay, ventricular bigeminy on electrocardiogram), ECG borderline systolic function, dilated left ventricle 1 1 Johan den Dunnen
00211453 - PubMed: Vatta 2003 - M - United States white >16y 0 - - CMD - 1 1 Johan den Dunnen
00211454 14662268-p PubMed: Vatta 2003 - - - United States - - 0 - - CMD - 1 5 Johan den Dunnen
00211455 14662268-c - - - - United States African American - 0 - - Healthy/Control - 1 6 Johan den Dunnen
00211456 - PubMed: Arimura 2004 2-generation family, 6 affecteds (3 deceased), 1 unaffected carrier sister - - Japan - - 0 - - CMD - 1 1 Johan den Dunnen
00211457 14660611-p/c PubMed: Arimura 2004 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00211458 14660611-p/c PubMed: Arimura 2004 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00211459 14660611-p/c PubMed: Arimura 2004 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00211460 14660611-p/c PubMed: Arimura 2004 - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00211461 17337483-Fam PubMed: Markesbery 1974, PubMed: Griggs 2007 4-generation family, 12 affecteds (6 deceased), 4 unaffected carriers - - Finland - - 0 - - MFM - 3 6 Johan den Dunnen
00211462 17337483-III.4 PubMed: Griggs 2007 - F - Finland - >70y 0 - - MFM 45y-tripping; muscle weakness distal legs 0-2, hands 4, hip flexion and extension 3, walks with DAFO; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm 1 1 Johan den Dunnen
00211463 17337483-III.5 PubMed: Griggs 2007 - F - Finland - >65y 0 - - MFM muscle weakness distal legs 0-2, hands 4, hip flexion and extension 4; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm 1 1 Johan den Dunnen
00211464 17337483-IV.5 PubMed: Griggs 2007 - F - Finland - >41y 0 - - MFM muscle weakness heel cord contractures; no muscle atrophy 1 1 Johan den Dunnen
00211465 17337483-IV.6 PubMed: Griggs 2007 - F - Finland - >57y 0 - - MFM muscle weakness foot dorsiflexion 2/2; no muscle atrophy 1 1 Johan den Dunnen
00211466 17337483-IV.8 PubMed: Griggs 2007 - M - Finland - >55y 0 - - MFM not examined 1 1 Johan den Dunnen
00211467 17337483-IV.9 PubMed: Griggs 2007 - F - Finland - >54y 0 - - MFM 49y-tripping; muscle weakness foot dorsiflexion 5-/5-; no muscle atrophy 1 1 Johan den Dunnen
00211468 17337483-IV.10 PubMed: Griggs 2007 - F - Finland - >52y 0 - - MFM muscle weakness foot dorsiflexion 4/4; no muscle atrophy 1 1 Johan den Dunnen
00211469 17337483-IV.11 PubMed: Griggs 2007 - F - Finland - >49y 0 - - MFM thus far unaffected 1 1 Johan den Dunnen
00211470 17337483-IV.12 PubMed: Griggs 2007 - F - Finland - >45y 0 - - MFM thus far unaffected 1 1 Johan den Dunnen
00211471 17337483-IV.18 PubMed: Griggs 2007 - M - Finland - >39y 0 - - MFM thus far unaffected 1 1 Johan den Dunnen
00211472 17337483-FamUK PubMed: Griggs 2007 - - - United Kingdom (Great Britain) - - 0 - - MFM - 1 1 Johan den Dunnen
00211473 17337483-FamFR PubMed: Griggs 2007 - - - France - - 0 - - MFM - 1 1 Johan den Dunnen
00211474 - PubMed: Arimura 2009 - - - - - - 0 - - Healthy/Control - 3 1 Johan den Dunnen
00211475 - PubMed: Vatta 2003 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00211476 - PubMed: Vatta 2003 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00211477 - PubMed: Selcen 2005 - - - - - - 0 - - MFM - 1 1 Johan den Dunnen
00211478 - PubMed: Selcen 2005 - - - - - - 0 - - MFM - 1 1 Johan den Dunnen
00211479 - PubMed: Olivé 2011 one family - - Spain - - 0 - - MFM - 1 1 Johan den Dunnen
00211480 - PubMed: Selcen 2005 - - - - - - 0 - - MFM - 1 1 Johan den Dunnen
00211481 21676617-Fam2/3 PubMed: Olivé 2011 2 families - - Spain - - 0 - - MFM - 1 2 Johan den Dunnen
00290156 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 51 Mohammed Faruq
00290157 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290158 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00290159 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 8 Mohammed Faruq
00290160 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 31 Mohammed Faruq
00290161 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290162 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290163 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00295986 - - - F - - - - 0 - - ? Lymphoma (HP:0002665); Exercise-induced myalgia (HP:0003738); Limb-girdle muscular dystrophy (HP:0006785); Depression (HP:0000716); Proximal muscle weakness in upper limbs (HP:0008997) 1 1 Andreas Laner
00296708 NCG_00370 PubMed: Haskell 2017 analysis 55 patients M - United States white - 0 - - ? hypertrophic cardiomyopathy 1 1 Johan den Dunnen
00304269 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00317751 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317752 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317753 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317754 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317755 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317756 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317757 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317758 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317759 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317760 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
00317761 - PubMed: Walsh 2017 - - - United States - - 0 - - CM - 1 1 Johan den Dunnen
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