All individuals with variants in gene LMNA

1036 entries on 11 pages. Showing entries 1 - 100.
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00016144 - - - ? ? Netherlands Caucasian - 0 - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00036059 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036060 - - - - - Germany - - 0 - - ? suspected partielle familiäre Lipodystrophie 1 1 Andreas Laner
00036061 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036062 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036063 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036064 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036065 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036066 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036067 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036068 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036069 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00054663 Pat16 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - >25y 0 - - MDC gross motor delay, progression with wheelchair dependency in teenage years, mild facial weakness; CPK elevated (863-1710); histology dystrophic 1 1 Sandra Cooper
00054670 - PubMed: O'Grady 2016 - F - Australia - >18y 0 - - MDC progression with loss of ambulation at 10y, contractures, scoliosis, restrictive lung disease; CPK mild elevation (448); histology dystrophic 1 1 Sandra Cooper
00054679 Pat92 PubMed: O'Grady 2016 - F - Australia - >21y 0 - - MDC progressive weakness with loss of ambulation age 10y, facial weakness, ptosis, contractures, tachyarrhythmia requiring pacemaker, restrictive lung disease ; CPK mild elevation (650-900); histology dystrophic 1 1 Sandra Cooper
00054687 Pat108 PubMed: O'Grady 2016 - M - Australia - >06y 0 - - MDC infantile hypotonia, gross motor delay, stood with support age 3y,macrocephaly, moderate obstructive sleep apnoea; CPK mild elevation (884-930); histology dystrophic 1 1 Sandra Cooper
00054690 Pat116 PubMed: O'Grady 2016 - F - Australia - >04y 0 - - MDC infantile hypotonia, gross motor delay, walked age 4y, contractures, prominent neck flexor weakness; CPK elevated (799-2470) 1 1 Sandra Cooper
00054692 Pat119 PubMed: O'Grady 2016 - M - Australia - >03y 0 - - MDC gross motor delay, walked age 3.5y, hypermobility, distal laxity; CPK elevated (926-1310) 1 1 Sandra Cooper
00059233 - - - M ? Azerbaijan Azerbaijanis >43y 0 yes Cardiac conduction defect was treated by implantation of two-chambered PM EDMD2;LGMD1B cardiac conduction defect 1 2 Yulia Rogozhina
00064068 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - CMH - 1 1 Johan den Dunnen
00064708 - - - F - Denmark - 24y 0 - - SUD - 1 1 Sofie Lindgren Christiansen
00100281 - PubMed: Carmosino 2016, Journal: Carmosino 5-generation family, 10 affecteds (4F, 6M), PatI2 F no Italy - 54y 0 - - ? 54y-sudden cardiac death 1 10 Johan den Dunnen
00100284 - PubMed: Carmosino 2016, Journal: Carmosino PatII1 M no Italy - 65y 0 - - ? dilated cardiomyopathy, 65y-sudden cardiac death 1 1 Johan den Dunnen
00100285 - PubMed: Carmosino 2016, Journal: Carmosino PatII2 F no Italy - 67y 0 - - ? 67y-sudden cardiac death 1 1 Johan den Dunnen
00100286 - PubMed: Carmosino 2016, Journal: Carmosino PatIII3 M no Italy - - 0 - 59y-pacemaker ? atrial fibrillation with slow ventricular response, mildly dilated right ventricle 1 1 Johan den Dunnen
00100287 - PubMed: Carmosino 2016, Journal: Carmosino PatIII4 F no Italy - - 0 - 58y-pacemaker ? 58y-atrioventricular block, 66y-atrial fibrillation, dilated cardiomyopathy 1 1 Johan den Dunnen
00100288 - PubMed: Carmosino 2016, Journal: Carmosino PatIII5 M no Italy - 69y 0 - 57y-pacemaker ? 57y-atrioventricular block, 60y-atrial fibrillation, 69y-sudden cardiac death 1 1 Johan den Dunnen
00100289 - PubMed: Carmosino 2016, Journal: Carmosino PatIV1 M no Italy - - 0 - 39y-implantable cardioverter defibrillator, 48y-heart transplantation ? atrioventricular block, 32y-non‐sustained ventricular tachycardia, 39y-sustained ventricular tachycardia, 44y-atrial flutter, arrhythmogenic cardiomyopathy 1 1 Johan den Dunnen
00100290 - PubMed: Carmosino 2016, Journal: Carmosino PatIV3 M no Italy - - 0 - 50y-pacemaker ? 50y-atrioventricular block, 52y-atrial fibrillation 1 1 Johan den Dunnen
00100291 - PubMed: Carmosino 2016, Journal: Carmosino PatIV4 M no Italy - - 0 - 43y-pacemaker, 48y-implantable cardioverter defibrillator ? atrioventricular block, 43y-sick sinus syndrome, 48y-sustained ventricular tachycardia, dilated cardiomyopathy 1 1 Johan den Dunnen
00100292 - PubMed: Carmosino 2016, Journal: Carmosino PatV1 F no Italy - - 0 - - ? non‐sustained ventricular tachycardia 1 1 Johan den Dunnen
00100297 - PubMed: Forleo 2015, Journal: Forleo 2015 4-generation family, 11 affecteds (5F, 6M) F;M no Italy - - 0 - - ? arrhythmogenic cardiac laminopathy, see paper; ..., incl. ARVC, DCM, system conduction defects, ventricular arrhythmias, sudden cardiac death 1 11 Johan den Dunnen
00128371 48 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00146465 19680556.c PubMed: Halaschek-Wiener 2009 - - - Canada - >85y 0 - - Healthy/Control - 27 94 Johan den Dunnen
00146475 Pat1 PubMed: Denecke 2006 - M yes Turkey - - 0 - - HGPS - 1 1 Johan den Dunnen
00164804 25 van Tienen, submitted - M - Netherlands - >34y 0 - - CMD - 1 1 Florence van Tienen
00164810 37 van Tienen, submitted - F - Netherlands - >42y 0 - - LVNC - 1 1 Florence van Tienen
00164979 27 van Tienen, submitted - M - Netherlands - >48y 0 - - CMD Left ventricle non-compaction, ASD 1 3 Florence van Tienen
00164980 36 van Tienen, submitted - M - Netherlands - >61y 0 - - CMH - 1 1 Florence van Tienen
00164981 38 van Tienen, submitted - M - (Netherlands) - >44y 0 - - LQT - 1 1 Florence van Tienen
00165003 42 van Tienen, submitted - M - Netherlands - >59y 0 - - LGMD LGMD; cardiomyopathy 1 1 Florence van Tienen
00165005 19 van Tienen, submitted - M ? Netherlands - >42y 0 - - CMD - 1 1 Florence van Tienen
00165006 20 van Tienen, submitted - M - Netherlands - >59y 0 - - CMD - 1 1 Florence van Tienen
00165007 32 van Tienen, submitted - M ? Netherlands - >78y 0 - - CMD - 1 1 Florence van Tienen
00165008 39 van Tienen, submitted - F - Netherlands - >51y 0 - - ARVC - 1 1 Florence van Tienen
00165009 21 van Tienen, submitted - F - Netherlands - >46y 0 - - CMD - 1 1 Florence van Tienen
00165010 26 van Tienen, submitted - M no Netherlands - >63y 0 - - CMD - 1 1 Florence van Tienen
00165011 33 van Tienen, submitted - M no Netherlands - - 0 >50y - CMD VF 1 1 Florence van Tienen
00165012 28 van Tienen, submitted - F no Netherlands - >30y 0 - - CMD muscle weakness 1 1 Florence van Tienen
00165016 24 van Tienen, submitted - M no Netherlands - >53y 0 - - CMD VF 1 1 Florence van Tienen
00165019 34 van Tienen, submitted - F no Netherlands - >44y 0 - - dystrophy, muscular, congenital, LMNA-related Emery dreiffus muscular dystrophy 1 1 Florence van Tienen
00165023 45 van Tienen, submitted - M no Netherlands - >50y 0 - - ATFB - 1 1 Florence van Tienen
00165029 22 van Tienen, submitted - M no Netherlands - >70y 0 - - CMD - 1 1 Florence van Tienen
00165031 23 van Tienen, submitted - M no Netherlands - >46y 0 - - CMD DCM, AF, mitralis insufficiency 1 1 Florence van Tienen
00165042 7 van Tienen, submitted - M no Netherlands - >03y 0 - - HGPS - 2 1 Florence van Tienen
00165044 35 van Tienen, submitted - F no Netherlands - >48y 0 - - Healthy/Control son has HGPS 1 1 Florence van Tienen
00165045 6 van Tienen, submitted - M no Netherlands - >36y 0 - - CMD - 1 1 Florence van Tienen
00165046 31 van Tienen, submitted - M - Netherlands - >53y 0 - - CMD - 2 1 Florence van Tienen
00165047 30 van Tienen, submitted - F ? Netherlands - - 0 - - CMD - 1 1 Florence van Tienen
00165048 40 van Tienen, submitted - M ? Netherlands - >17y 0 - - LVNC - 1 1 Florence van Tienen
00165050 2 van Tienen, submitted - ? ? ? (unknown) - - 0 - - - - 1 1 Florence van Tienen
00165051 4 van Tienen, submitted - F ? Netherlands - >51y 0 - - FPLD-2 - 1 1 Florence van Tienen
00165052 5 van Tienen, submitted - ? - - - - 0 - - FPLD-2 - 1 1 Florence van Tienen
00165053 8 van Tienen, submitted - - - - - - 0 - - syndrome, heart-hand, Slovenian type - 1 1 Florence van Tienen
00165054 9 van Tienen, submitted - - - - - - 0 - - HGPS - 1 1 Florence van Tienen
00174785 29970176-Pat19 PubMed: Fichna 2018 - M - Poland - - 0 - - LGMD onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait 1 1 Johan den Dunnen
00180911 58 - - M ? Denmark - 19y 0 - - SUD sudden death with dilated cardiomyopathy (DCM) diagnosed at autopsy 1 1 Sofie Lindgren Christiansen
00181217 1 - - ? ? - - - 0 - - EDMD2;LGMD1B - 1 1 Florence van Tienen
00181219 3 - - ? ? - - - 0 - - CMD died shortly after birth 1 1 Florence van Tienen
00181220 - - - M ? - - >54y 0 - - Healthy/Control - 1 1 Florence van Tienen
00181221 43 - - M ? - - >33y 0 - - CMH VF 1 1 Florence van Tienen
00208128 ? PubMed: Muntoni 2006 2-generation family, carrier brother deceased, asymptomatic father M no United Kingdom (Great Britain) - 22y 0 - - CMD cardiac failure, breathlessness, normal CPK 1 2 Johan den Dunnen
00213409 18585512-PatR4 PubMed: Parks 2008 D3 (19412328), B10 (20215591); 2-generation family, 1 affected; M - United States white - 0 - - CMD - 1 1 Johan den Dunnen
00216138 - PubMed: Manilal, PubMed: Muntoni, PubMed: Muntoni 2006 4 generation family (case 3) M - United Kingdom (Great Britain) - - 0 - - EDMD severe, atypical cardiac features; CPK elevated (HP:0003236) >10x; lost ability to walk (HP:0006957) 13y 1 1 Johan den Dunnen
00216183 - PubMed: Brown - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216184 - PubMed: Brown - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216185 - PubMed: Felice, PubMed: Brown - - - - - - 0 - - EDMD aunt died of cardiac arrhythmia 1 1 Johan den Dunnen
00216186 - PubMed: Brown - M - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216187 - PubMed: Brown - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216188 - Drouin, ASHG2004, P640 - F;M - France - >50y 0 - - ? complex incl. muscle weakness, atrial fibrilation, hypertriglyceridaemia and acro-osteolysis 1 3 Johan den Dunnen
00216189 - PubMed: Vytopil - - - - - - 0 - - EDMD predominant cardiac symptomatology and sudden death 1 1 Johan den Dunnen
00216190 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216191 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216192 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216193 - Lacene, Neuromuscul.Disord. 12: 722 - - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00216194 - PubMed: Ki - - - Korea, South (Republic) - - 0 - - LGMD - 1 1 Johan den Dunnen
00216195 - PubMed: Novelli, PubMed: Taylor - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00216196 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216197 - PubMed: Taylor - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00216198 - Lacene, Neuromuscul.Disord. 12: 722 - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216199 - PubMed: Speckman, PubMed: Eriksson, PubMed: Taylor, - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00216200 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216201 - PubMed: Raffaele di Barletta - M - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216202 - PubMed: Raffaele di Barletta - M - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216203 - PubMed: Raffaele di Barletta - M - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216204 - PubMed: Raffaele di Barletta - M - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216205 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216206 - PubMed: Bonne - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216207 - PubMed: Raffaele di Barletta - - - - - - 0 - - EDMD - 1 1 Johan den Dunnen
00216208 - PubMed: Shackleton, OMIM:var0011 - - - - - - 0 - - FPLD - 1 1 Johan den Dunnen
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