All individuals with variants in gene MYH7

615 entries on 7 pages. Showing entries 1 - 100.
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00016142 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands Caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00016143 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - ? ? Netherlands caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 3 1 Terry Vrijenhoek
00052406 - - sister has early onset distal leg weakness, both siblings also have TIA1 p.(Glu384Lys) het variant F no ? (unknown) Swedish, Greek - 0 - - CMH supraventricular tachycardia, distal leg weakness 1 1 Jie Liu
00058468 - PubMed: van Spaendonck-Zwarts 2014 3-generation family, 2 affecteds F - Germany - - 0 - - PPCM 1 case mild DCM 1 2 Johan den Dunnen
00064066 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064070 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064072 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064073 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064076 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064083 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064086 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064089 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064090 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064101 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064102 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064106 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064107 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064109 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064111 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064121 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064122 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064131 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064141 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064149 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 2 1 Johan den Dunnen
00064157 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064160 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064188 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064190 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064192 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064198 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064204 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064211 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064212 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064214 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064282 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064283 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064284 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064285 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064286 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00078525 - - - F no Israel - - 0 - - MYOP Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture; myopathy, scapuloperoneal, MYH7-related (SPMM) 2 1 Yonatan Perez
00108628 Pat748 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH fam.history of hypertrophic cardiomyopathy; fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; non-sustained ventricular tachycardia, atrial fibrillation, Wolff-Parkinson-White syndrome; left ventricular wall thickness (mm) 17; left ventricular ejection fraction 0.60 1 1 Domenico Coviello
00108638 Pat898 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 11; left ventricular ejection fraction 0.70 1 1 Domenico Coviello
00108639 Pat902 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; hypothyroidism, premature ventricular contractions, non-sustained ventricular tachycardia; left ventricular wall thickness (mm) 19; left ventricular ejection fraction 0.64 1 1 Domenico Coviello
00108641 Pat905 PubMed: Cecconi 2016, Journal: Cecconi 2016 - M - Italy - - 0 - - CMH fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; heart transplantation 1 1 Domenico Coviello
00108649 Pat94 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 24; left ventricular ejection fraction 0.65 1 1 Domenico Coviello
00108687 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108688 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108689 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108690 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108691 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108692 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108693 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108694 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108695 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108696 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108697 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108698 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108699 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00108700 HCM PubMed: Cecconi 2016, Journal: Cecconi 2016 - - - Italy - - 0 - - CMH - 1 1 Domenico Coviello
00128365 26 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00128492 290 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00154670 - PubMed: Olivotto 2011 - F - - - >25y 0 - - CMH - 1 1 Johan den Dunnen
00163861 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - F - Netherlands Asian - - yes septal myectomy CMH - 1 1 Judith Verhagen
00163879 - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 2 affected (2M), 8 unaffected ? - Netherlands Caucasian - - yes DDD pacemaker CMH - 1 1 Judith Verhagen
00174755 29970176-Pat18 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms early childhood; CPK raised 26x; impaired running from early childhood; progression of limb-girdle weakness and foot drop in adolescence; diffuse muscle atrophy, asymmetrical weakness - also distal weakness in upper and lower limbs; ambulation preserved 1 1 Johan den Dunnen
00174777 29970176-Pat407 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms early childhood; CPK raised 4.5x; impaired running/stair climbing from early childhood; progression of limb-girdle weakness in adolescence; scoliosis, pectus excavatum, calf hypertrophy; waddling gait 1 1 Johan den Dunnen
00180907 34 - - F ? Denmark - 23y 0 - - SUD - 1 1 Sofie Lindgren Christiansen
00207381 - - - F no Portugal white >52y 0 - - LVNC Left Ventricular noncompaction 1 1 André Militão
00207959 - - - M - Germany - - 0 - - - HP:0002355 (Difficulty walking); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy); HP:0000508 (Ptosis) 1 1 Andreas Laner
00208624 - - - M - Germany - - 0 - - - HP:0008970 (Scapulohumeral muscular dystrophy) 1 1 Andreas Laner
00209041 28771251-Pat98 PubMed: Lionel 2018 - M - Canada - - 0 - - CMD dilated cardiomyopathy 1 1 Johan den Dunnen
00210169 - - - F - Germany - - 0 - - - HP:0000925 (Abnormality of the vertebral column); HP:0003198 (Myopathy); HP:0003306 (Spinal rigidity); HP:0011805 (Abnormality of muscle morphology) 1 1 Andreas Laner
00212290 12788380-FamMM PubMed: Waldmuller 2003 3-generation family, 5 MYH7/5 MYBPC3 variant carriers; all MYH7 carriers severly affected with Age_onset <20y; 2 MYBPC3 carriers mildly affected/late Age_onset, 2 asymptomatic - no India - - 0 - - CMH - 1 5 Johan den Dunnen
00212548 10424815-Fam PubMed: Richard 1999, PubMed: Richard 2003 5-generation family, 9 affected (5F, 4M), segregating MYBPC3 and MYH7 variant (2 individuals carrying both variants) F;M no France - - 0 - - CMH see paper; ... 1 9 Johan den Dunnen
00212549 20801532-PatAA1 PubMed: Bagnall 2010 2-generation family, unaffected carrier mother M - Australia - >21y 0 - - CMH severe 1 2 Johan den Dunnen
00212550 22286171-PatMC31379 PubMed: Purevjav 2012 sibling of JC31380 F - - white >35y 0 - - CMD treatment: lesinopril and metoprolol 1 1 Julia Lopez
00212551 22286171-PatJC31380 PubMed: Purevjav 2012 sibling of JC31379 F - - white >38y 0 - - CMD treatment: metoprolol 1 1 Julia Lopez
00212552 - PubMed: Blair 2001 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212553 - PubMed: Millat 2010 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212554 - PubMed: Morita 2006 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00212555 - PubMed: Rosenzweig 1991 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212556 - PubMed: Dausse 1993 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212557 - PubMed: Moolman-Smook 1999 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212558 - PubMed: Moolman 1995 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212559 - PubMed: Watkins 1995 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212560 - PubMed: Hougs 2005 - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00212561 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212562 - PubMed: Klaassen 2008 - - - - - - 0 - - LVNC - 1 1 Johan den Dunnen
00212563 - PubMed: Richard 2003 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212564 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212565 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212566 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212567 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212568 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212569 - PubMed: Karkkainen 2004 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212570 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212571 - PubMed: Hershberger 2008 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
00212572 - PubMed: Olivotto 2008 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212573 - PubMed: Frisso 2009 - - - - - - 0 - - CMH - 1 1 Johan den Dunnen
00212574 - PubMed: Waldmuller 2011 - - - - - - 0 - - CMD - 1 1 Johan den Dunnen
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