All individuals with variants in gene MYL2

86 entries on 1 page. Showing entries 1 - 86.
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00064075 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064085 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064094 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064199 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00108633 Pat865 PubMed: Cecconi 2016, Journal: Cecconi 2016 - M - Italy - - - - - CMH fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 28; hypertrophic obstructive cardiomyopathy, myocardial bridge on anterior interventricular artery, ventricula fibrillation; left ventricular ejection fraction 0.61 2 1 Domenico Coviello
00163746 BOS1053 Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H. - M no United States - - - - - CMYO4A;CFTD CFTD with ilated cardiomyopathy (HP:0001644), congenital 1 1 Minttu Marttila
00163885 - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 2 affected siblings (2F), 3 unaffected (2M, 1F) F - Netherlands white 00y06m - yes - CMD generalized myopathy 1 1 Judith Verhagen
00210208 - PubMed: Poetter affected individual, family members variable expression/decreased penetrance - - United States - - - - - CMH - 1 1 Johan den Dunnen
00210209 Fam734 PubMed: Flavigny 1998, OMIM:var0005 4-generation family, 8 affecteds, 4 unaffected young carriers - - France - - - - - CMH - 1 12 Johan den Dunnen
00210210 - PubMed: Poetter 2 affected brothers - - United States - - - - - CMH - 1 2 Johan den Dunnen
00210211 Pat-ZG PubMed: Andersen 2001, PubMed: Hougs 2005 1 affected - - Denmark - - - - - CMH - 1 1 Johan den Dunnen
00210212 Fam747 PubMed: Flavigny 1998, OMIM:var0004 family, 3 affecteds, 1 unaffected carrier - - France - - - - - CMH - 1 4 Johan den Dunnen
00210213 Fam-ZY PubMed: Andersen 2001 3-generation family, affected father/son, unaffected mother/aunt 310A>G carrier, unaffected double carrier sister - - Denmark - - - - - CMH - 2 2 Johan den Dunnen
00210214 - PubMed: Poetter - - - United States - - - - - CMH - 1 1 Johan den Dunnen
00210215 Fam701 PubMed: Flavigny 1998, OMIM:var0004 family, 5 affecteds - - France - - - - - CMH - 1 5 Johan den Dunnen
00210216 - PubMed: Poetter - - - United States - - - - - CMH - 1 1 Johan den Dunnen
00210217 12021217-FamPat1 PubMed: Caleshu 2011 2-generation family F - El Salvador - - - - - RCM carrier mother MYL2:G57E and MYL3:E143K 1 1 Johan den Dunnen
00210218 Fam-T PubMed: Andersen 2001 family, 2 affecteds, unaffected young carrier - - Denmark - - - - - CMH - 1 3 Johan den Dunnen
00210219 - PubMed: Andersen 2001 - - - South Africa - - - - - Healthy/Control - 1 1 Johan den Dunnen
00210220 - PubMed: Andersen 2001 - - - Denmark Denmark;African - - - - Healthy/Control - 1 1 Johan den Dunnen
00210221 - PubMed: Andersen 2001 - - - Denmark;South Africa - - - - - Healthy/Control - 1 1 Johan den Dunnen
00210222 Fam-B PubMed: Kabaeva 2002 2-generation family, 3 affecteds - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210223 Fam-K PubMed: Kabaeva 2002 4-generation family, 4 affecteds, 3 uncertain carriers - - Germany white - - - - CMH - 1 7 Johan den Dunnen
00210224 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210225 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210226 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210227 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210228 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210229 - PubMed: Kabaeva 2002 - - - Germany white - - - - CMH - 1 1 Johan den Dunnen
00210230 - PubMed: Richard 2003 - - - France - - - - - CMH - 1 1 Johan den Dunnen
00210231 - PubMed: Richard 2003 - - - France - - - - - CMH - 1 1 Johan den Dunnen
00210232 - PubMed: Richard 2003 - - - France - - - - - CMH - 1 1 Johan den Dunnen
00210233 - PubMed: Richard 2003 - - - France - - - - - CMH - 1 1 Johan den Dunnen
00210234 Fam6-H6 PubMed: Garcia-Pavia 2011 - - - Spain - - - - - CMH 3-generation family, 2 affecteds, 4 unaffected carriers 2 2 Johan den Dunnen
00210235 12818575-XII PubMed: Morner 2003 - - - Sweden - - - - - CMH - 1 1 Johan den Dunnen
00210236 - PubMed: Olivotto 2008 - - - Italy - - - - - CMH - 1 1 Johan den Dunnen
00210237 - PubMed: Olivotto 2008 - - - Italy - - - - - CMH - 1 1 Johan den Dunnen
00210238 - PubMed: Olivotto 2008 - - - Italy - - - - - CMH 3 cases 1 3 Johan den Dunnen
00210239 - PubMed: Olivotto 2008 - - - Italy - - - - - CMH 2 cases 1 2 Johan den Dunnen
00210240 - PubMed: Andersen 2001 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210241 - PubMed: Flavigny 1998 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210242 - PubMed: Poetter 1996 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210243 - PubMed: Andersen 2001 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210244 - PubMed: Poetter 1996 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210245 - PubMed: Olivotto 2008 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210246 - PubMed: Olivotto 2008 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210247 - PubMed: Richard 2003 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210248 - PubMed: Flavigny 1998 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00210249 - PubMed: Poetter 1996 - - - - - - - - - CMH - 1 1 Johan den Dunnen
00219095 Proband-Fam PubMed: Renaudin 2018 4-generation family, proband, 11 affected carriers (mean age: 34.1y). There are also 4 children (mean age: 6.3y) carrying the variant, but are not yet affected. - ? France - - - - - CMH See paper 1 12 Jilani Jawaid
00295256 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00296719 NCG_00687 PubMed: Haskell 2017 analysis 55 patients M - United States white - - - - ? hypertrophic cardiomyopathy 1 1 Johan den Dunnen
00316695 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 3 Johan den Dunnen
00316696 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316697 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 2 Johan den Dunnen
00316698 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 2 Johan den Dunnen
00316699 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316700 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316701 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00317547 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317548 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317549 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317550 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317551 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317552 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317553 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317554 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317555 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 5 Johan den Dunnen
00317556 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317557 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317558 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317559 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317560 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317561 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317562 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317563 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317564 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317565 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317566 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317567 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 2 Johan den Dunnen
00317568 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317569 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 3 Johan den Dunnen
00317851 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00446779 Pat54 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - LVNC - 1 1 Johan den Dunnen
00453158 Fam321Pat349 Fusco 2042, submitted - M - Italy white - - - - CM - 1 1 Carmela Fusco
00453227 Fam44Pat82 Fusco 2042, submitted - F - Italy white - - - - CM - 1 1 Carmela Fusco
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