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APPENDIXMethods Patient recruitment Inclusion criteria were: 1) DCM characterized by a left ventricle ejection fraction (LVEF) <50% and an indexed left ventricular end diastolic diameter LVEDDI >33 mm/m2 (men) or >32 mm/m2 (women)PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5NYXJvbjwvQXV0aG9yPjxZZWFyPjIwMDY8L1llYXI+PFJl

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ADDIN EN.CITE.DATA (10); 2) endomyocardial biopsy performed; 3) genetic evaluation; 4) age ≥18 years; 5) written informed consent. Exclusion criteria included presence of:previous history of myocardial infarction and/or significant coronary artery disease (stenosis >50%) using coronary angiography; primary valvular disease (mitral regurgitation grade≥3, aortic regurgitation grade≥2, or aortic stenosis < 1cm2 );hypertensive heart diseasecongenital heart disease; (suspected) acute myocarditis defined by either an episode of viral prodromes (febrile infection of the bronchial tree, the gut, or the urinary tract) within the last 6 months and at least one of the following features not related to myocardial ischemia: increase in serum concentrations of myocardial necrosis markers, pericardial effusion, (non)sustained ventricular tachycardia or ventricular fibrillation of unknown origin and impaired global or regional left ventricular systolic function; (likely) diagnosis of arrhythmogenic right ventricular dysplasiaPatients with possible reversible DCM (tachycardiomyopathy, alcohol-induced, chemotherapy-induced) were optimally treated for at least 6 months before they were included in the registry. Patients with previously unknown systemic diseases which were diagnosed during the clinical diagnostic work-up were included in the registry. Distribution of systemic diseases known to be associated with DCM included rheumatoid arthritis (n=6), sarcoidosis (n=4), vasculitis (n=2), systemic lupus (n=1), polymyositis (n=1), Crohn’s disease (n=1), morbus Bechterew (n=1), coeliac disease (n=1). Transthoracic echocardiographyEchocardiographic measurements were performed in the standard parasternal, apical and subxiphoidal views according to the recommendations of the American Society of Echocardiography (Sonos 5500 and iE33; Philips Medical Systems, Best, The Netherlands)(10). Two independent echocardiographers blinded to patient details performed the measurements, including left ventricular (LV) end-diastolic (EDD) and end-systolic diameter (LVESD), end-diastolic thickness of the interventricular septum (IVS) and LV posterior wall (LVPW). LV mass was calculated as previously defined. LVEF was measured with Simpson’s biplane method from apical view. LV reversed remodeling (LVRR) was defined as an absolute increase in LVEF of ≥10% or a LVEF of ≥50% in combination with a decrease in LVEDDI of ≥10% or LVEDDI ≤33 mm/m2(11).Endomyocardial biopsyRight ventricular EMBs were obtained using a transcatheter bioptome (Cordis, Miami, FL, USA). A total of six endomyocardial biopsies were taken from the right ventricle. Two to three specimens were used for immunohistological analysis and three for the detection of viral genomes. Histopathological examinations were done on 4 um-thick tissue section from formalin-fixed, paraffin-embedded EMBs stained using hematoxylin, eosin, Sirius red, CD3+, CD45+ and CD68+ antibodies according to the manufacturer’s protocol (DAKO, Glostrup, Denmark) and further quantified as described previously PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5IZXltYW5zPC9BdXRob3I+PFllYXI+MjAwNTwvWWVhcj48

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ADDIN EN.CITE.DATA (13). Patients with active, fulminant or giant cell myocarditis were excluded (n=22). Increased cardiac inflammation is defined as ≥14 infiltrating cells per mm2, according to the task force of the World Heart Federation’s Council on Cardiomyopathies ADDIN EN.CITE <EndNote><Cite><Author>Richardson</Author><Year>1996</Year><RecNum>29</RecNum><DisplayText>(14)</DisplayText><record><rec-number>29</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">29</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>Richardson, P.</author><author>McKenna, W.</author><author>Bristow, M.</author><author>Maisch, B.</author><author>Mautner, B.</author><author>O&apos;Connell, J.</author><author>Olsen, E.</author><author>Thiene, G.</author><author>Goodwin, J.</author><author>Gyarfas, I.</author><author>Martin, I.</author><author>Nordet, P.</author></authors></contributors><titles><title>Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies</title><secondary-title>Circulation</secondary-title><alt-title>Circulation</alt-title></titles><periodical><full-title>Circulation</full-title><abbr-1>Circulation</abbr-1></periodical><alt-periodical><full-title>Circulation</full-title><abbr-1>Circulation</abbr-1></alt-periodical><pages>841-2</pages><volume>93</volume><number>5</number><keywords><keyword>Cardiomyopathies/*classification</keyword><keyword>Humans</keyword></keywords><dates><year>1996</year><pub-dates><date>Mar 1</date></pub-dates></dates><isbn>0009-7322 (Print)&#xD;0009-7322 (Linking)</isbn><accession-num>8598070</accession-num><urls><related-urls><url>;(14). Collagen volume fraction (CVF) was quantified as percentage Sirius red stained area per total myocardial tissue area, excluding perivascular and endocardial fibrosis PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5IZXltYW5zPC9BdXRob3I+PFllYXI+MjAwNTwvWWVhcj48

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ADDIN EN.CITE.DATA (13).Three frozen myocardial specimens were used for polymerase chain reaction (PCR) and reverse transcriptase PCR analysis to detect the presence of cardiotropic viruses. DNA of parvovirus B19 (PVB19), Human herpes virus-6 (HHV-6), adenovirus, and Epstein-Barr virus (EBV) was extracted from three pooled endomyocardial biopsies using a QIAmp DNA blood mini kit (Qiagen, Venlo, The Netherlands). Extractions were performed according to the manufacturer’s instructions. DNA concentrations were determined using a nanodrop instrument (Thermo Fischer Scientific, Wilmington, DE, USA). RNA for enterovirus detections was isolated using TRIZOL reagents (Invitrogen, Paisley, Scotland, UK). Before extraction, all samples were spiked with murine cytomegalovirus (CMV) DNA or RNA, which was used as an extraction and amplification control. Reverse transcription was performed using Taqman reverse transcriptase reagents (Applied Biosystems, Foster City, CA, USA). Primers and probe sequences were obtained from the literature, as previously described (15). The PCR mix consisted of 20 ?l isolated DNA, final concentrations of 600 nM of each primer and 200 nM of the probe and 1x absolute QPCR mix (Abgene, Epsom, UK). All probes were labelled with FAMTM as a reporter dye and TAMRATM as a quencher dye. All real-time PCR reactions were performed using an ABI prism 7000 (Applied Biosystems). The PCR assay used has a linear quantitative range from 1.0x102-1.0x108 copies with a detection probability above 95%. Below this range semiquantitative detection is performed by extrapolation of the standard curve. We evaluated the variation of each DNA concentrations in the standard curve over a period of 3 months. Our results showed that standard deviation was ≤0.15 log10 for all concentrations >500 copies/ml. Only for the two lowest concentrations (500 and 200 copies/ml) standard deviations up to a maximum of 0.38 log10 were measured. The quality of the assays was assured by positive and negative controls as well as a test on amplification inhibition in each sample by an external amplification control. For quantification of viral loads, standard curves were included in each run. Significant viral load was defined as ≥500 copies per microgram DNA, as previously described ADDIN EN.CITE <EndNote><Cite><Author>Bock</Author><Year>2010</Year><RecNum>31</RecNum><DisplayText>(16)</DisplayText><record><rec-number>31</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">31</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>Bock, C. T.</author><author>Klingel, K.</author><author>Kandolf, R.</author></authors></contributors><titles><title>Human parvovirus B19-associated myocarditis</title><secondary-title>N Engl J Med</secondary-title><alt-title>The New England journal of medicine</alt-title></titles><periodical><full-title>N Engl J Med</full-title><abbr-1>The New England journal of medicine</abbr-1></periodical><alt-periodical><full-title>N Engl J Med</full-title><abbr-1>The New England journal of medicine</abbr-1></alt-periodical><pages>1248-9</pages><volume>362</volume><number>13</number><keywords><keyword>Adult</keyword><keyword>Cardiomyopathy, Dilated/*virology</keyword><keyword>Chronic Disease</keyword><keyword>Female</keyword><keyword>Heart/virology</keyword><keyword>Humans</keyword><keyword>Infant</keyword><keyword>Male</keyword><keyword>Middle Aged</keyword><keyword>Myocarditis/*virology</keyword><keyword>Parvoviridae Infections/*virology</keyword><keyword>Parvovirus B19, Human/*isolation &amp; purification</keyword><keyword>Viral Load</keyword></keywords><dates><year>2010</year><pub-dates><date>Apr 1</date></pub-dates></dates><isbn>1533-4406 (Electronic)&#xD;0028-4793 (Linking)</isbn><accession-num>20357294</accession-num><urls><related-urls><url>;(16). MOGESOrgan involvementOrgan involvement is routinely assessed by the clinical geneticist with additional standardized questionnaires. extra-cardiac organ involvement was assessed according to the proposed organs in the MOGES classification, i.e. muscle-skeletal, nervous, cutaneous, eye, auditory, kidney, gastrointestinal, skeletal. Data considering extra-cardiac organ involvement such as dysphagia, severe obstipation indicating additional diagnostics and chronic medication, congenital deafness, objective muscular weakness or dystrophy with or without increased creatinine kinase levels, vascular purpura, alopecia, glomerulonephritis, epilepsia, congenital blindness, uveitis, episcleritis) were collected from the patient records and a standardized questionnaire, and reviewed by two investigators. Disagreements were settled by consensus. Extra-cardiac organ involvement was considered positive if the condition was proven by a specialist and has a known or suspected relation to DCM. Extra-cardiac organ involvement most likely secondary due to heart failure or treatment was not considered as organ involvement for the MOGES classification. Genetic or familial DCMAll index patients underwent genetic counseling and testing. A minimum of three generations family history of cardiomyopathy and/or sudden cardiac death was drafted?? by a clinical geneticist. Systematic non-invasive cardiac evaluation including electrocardiogram and echocardiography was performed in all first-degree relatives of probands who consented, as indicated. ADDIN EN.CITE <EndNote><Cite><Author>Hershberger</Author><Year>2009</Year><RecNum>51</RecNum><DisplayText>(17)</DisplayText><record><rec-number>51</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">51</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>Hershberger, R. E.</author><author>Lindenfeld, J.</author><author>Mestroni, L.</author><author>Seidman, C. E.</author><author>Taylor, M. R.</author><author>Towbin, J. A.</author><author>Heart Failure Society of, America</author></authors></contributors><auth-address>Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Florida 33101-5138, USA. rhershberger@med.miami.edu</auth-address><titles><title>Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline</title><secondary-title>J Card Fail</secondary-title><alt-title>Journal of cardiac failure</alt-title></titles><periodical><full-title>J Card Fail</full-title><abbr-1>Journal of cardiac failure</abbr-1></periodical><alt-periodical><full-title>J Card Fail</full-title><abbr-1>Journal of cardiac failure</abbr-1></alt-periodical><pages>83-97</pages><volume>15</volume><number>2</number><keywords><keyword>Cardiomyopathies/diagnosis/*genetics/physiopathology</keyword><keyword>Genetic Counseling</keyword><keyword>Genetic Testing</keyword><keyword>Humans</keyword><keyword>Risk Assessment</keyword><keyword>Societies, Medical</keyword><keyword>United States</keyword></keywords><dates><year>2009</year><pub-dates><date>Mar</date></pub-dates></dates><isbn>1532-8414 (Electronic)&#xD;1071-9164 (Linking)</isbn><accession-num>19254666</accession-num><urls><related-urls><url>;(17) Familial inheritance was based on the presence of two or more affected individuals in a single family or in the presence of a first-degree relative with well documented unexplained sudden cardiac death ADDIN EN.CITE <EndNote><Cite><Author>Mestroni</Author><Year>1999</Year><RecNum>76</RecNum><DisplayText>(18)</DisplayText><record><rec-number>76</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">76</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>Mestroni, L.</author><author>Maisch, B.</author><author>McKenna, W. J.</author><author>Schwartz, K.</author><author>Charron, P.</author><author>Rocco, C.</author><author>Tesson, F.</author><author>Richter, A.</author><author>Wilke, A.</author><author>Komajda, M.</author></authors></contributors><auth-address>International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.</auth-address><titles><title>Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy</title><secondary-title>Eur Heart J</secondary-title><alt-title>European heart journal</alt-title></titles><periodical><full-title>Eur Heart J</full-title><abbr-1>European heart journal</abbr-1></periodical><alt-periodical><full-title>Eur Heart J</full-title><abbr-1>European heart journal</abbr-1></alt-periodical><pages>93-102</pages><volume>20</volume><number>2</number><keywords><keyword>Cardiomyopathy, Dilated/*diagnosis/*genetics/physiopathology</keyword><keyword>Cardiomyopathy, Hypertrophic/diagnosis/genetics</keyword><keyword>Cardiomyopathy, Restrictive/diagnosis/genetics</keyword><keyword>Diagnosis, Differential</keyword><keyword>Female</keyword><keyword>Humans</keyword><keyword>Male</keyword><keyword>Sensitivity and Specificity</keyword></keywords><dates><year>1999</year><pub-dates><date>Jan</date></pub-dates></dates><isbn>0195-668X (Print)&#xD;0195-668X (Linking)</isbn><accession-num>10099905</accession-num><urls><related-urls><url>;(18) at <60 years of age. The selection of tested genes was based on the expertise of the clinical geneticist. In specific cases of cardiomyopathies, non-cardiac features or mixed-phenotypes were initially considered based on clinical assessment, leading to the evaluation of additional genes. During the inclusion period of 10 years we screened genes consecutively, based upon the knowledge at that time. This strategy changed over time, due to increasing knowledge and improving techniques, new genes were identified and tested accordingly. All genes were analyzed using Sanger sequencing (details available upon request). Variants were classified in 5 different classes: Pathogenic (Path), Likely Pathogenic, variant of clinical unknown significance (VUS), likely benign or benign. Both pathogenic and likely pathogenic mutations were classified as pathogenic mutations. All others were considered as non-pathogenic. Genetic/familial DCM was classified as presence of familial inheritance pattern and/or presence of a pathogenic mutation.Rhythm disturbances or toxic exposureDCM is categorized as due to rhythm disturbances in case of initial tachycardia-induced cardiomyopathy (atrial fibrillation or atrial tachycardia with a mean ventricular response of >100 bpm recorded on 24-hour Holter), however did not improve after 6 months optimal treatment and were referred for further evaluation of the DCM. Secondly, premature ventricular complex (PVC)-induced cardiomyopathy (≥20% PVCs of total QRS-complexes) was also characterized as a rhythm disturbance associated with development of DCM.PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5TaGluYmFuZTwvQXV0aG9yPjxZZWFyPjE5OTc8L1llYXI+

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ADDIN EN.CITE.DATA (7-9) DCM is categorized as toxic if the cardiomyopathy is related to heavy alcohol use (>8 oz/day of ethanol for 6 months) or abuse of cocaine, ecstasy or heroin; or if the cardiomyopathy is related to cancer therapy (doxorubicin, daunorubicin, trastuzumab, epirubicin, mitoxantrone, rituximab, idarubicin, Taxane, fluorouracil and/or radiation in the chest area).PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5GZWxrZXI8L0F1dGhvcj48WWVhcj4xOTk5PC9ZZWFyPjxS

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ADDIN EN.CITE.DATA (5-9) References for supplementary table 2The following references indicate the articles validating the (likely) pathogenic nature of the respective mutations shown in supplementary table 2. Karkkainen S, Helio T, Jaaskelainen P et al. Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. Eur J Heart Fail 2004;6:861-8.Dausse E, Komajda M, Fetler L et al. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest 1993;92:2807-13.Scharner J, Brown CA, Bower M et al. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat 2011;32:152-67.Benedetti S, Menditto I, Degano M et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007;69:1285-92.Girolami F, Ho CY, Semsarian C et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol 2010;55:1444-53.Rodriguez-Garcia MI, Monserrat L, Ortiz M et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet 2010;11:67.DeWitt MM, MacLeod HM, Soliven B et al. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol 2006;48:1396-8.Kapplinger JD, Tester DJ, Alders M et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010;7:33-46.Hegde MR, Chin EL, Mulle JG et al. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008;29:1091-9.Supplemental Table 1. Baseline characteristics of DCM patients with and without complete diagnostic work-up for DCMBaseline variablesComplete work-upN=213Incomplete work-upN=181P valueAge of onset (years)51±1350±130.65Gender (M/F)128/8541/290.89HR (bpm)74±1579±190.14SBP (mmHg)129±20127±210.32DBP (mmHg)79±1278±140.28Body height (cm)175±9,6174±90.80Body weight (kg)82±1882±190.83BSA1,6±0,271,7±0,250.72Sympt duration to presentation (months)4 [1-19]5 [1-21]0.50ECG LBBB55 (26)38 (21)0.28 AV block10 (5)7 (4)0.64 AF 36 (17)35 (20)0.48Echocardiographic LVEF 29±1129±110.69 LVEDD 62±861±90.48 LVEDDI40±840±80.65Co-morbidities History of HT 83 (40)71 (39)0.97 Hyperlipidemia36 (17)29 (15)0.46 OSAS21 (10)15 (8)0.58 Diabetes Mellitus23 (11)21 (12)0.32 Hyperthyroidism3 (1)6 (3)0.32 Hypothyroidism6 (3)5 (3)1.00 Systemic disease17 (8)EMB performedN=213N=107Cardiac inflammation87 (41)46 (45)0.74 CD3+ (cells/mm2)4.7 [2.4- 8.3]5.2 [2.6-9.1]0.65 CD45+ (cells/mm2)8.5 [5.5-13]9.4 [5.4-13]0.98 CD68+ (cells/mm2)3.0 [1.2-6.2]3.3 [1.4-7.0]0.57Fibrosis (%)5.7 [3-10]6.6 [3.8-12]0.22Viral presence162 (76)91 (85)0.31 PVB19152 (75)86 (80)0.27 HHV648 (23)21 (20)0.42 EBV11 (5)5 (5)0.80 Adenovirus4 (2)1 (1)0.66 Enterovirus0 (0)2 (2)0.13Follow-up Duration (months)47 [30-67]48 [30-68]0. All-cause death15 (7)18 (10)0.30 Htx1 (1)2 (1)0.60 Life-threat. arrhythmia12 (6)11 (6)0.85 CEP27 (13)24 (13)0.86 Lost-to-follow-up0 (0)3 (2)0.10-20447086360Abbreviations, M indicates male; F, female; bpm, beats per minute; SBP, systolic blood pressure; DBP, diastolic blood pressure; BSA, body surface area; OHCA, out-of-hospital cardiac arrest; sx, symptoms; LBBB, left bundle branch block; LVEF, left ventricular ejection fraction; LVEDD, left ventricular end-diastolic diameter; HT, hypertension; OSAS, obstructive sleep apnea syndrome; EMB, endomyocardial biopsy; PVB19, Parvovirus B19; HHV6, human herpes virus-6; EBV, Ebstein-Barr virus; Htx, heart transplantation; Life Threat. Arrhythmia, life-threatening arrhythmia; CEP, combined end-point00Abbreviations, M indicates male; F, female; bpm, beats per minute; SBP, systolic blood pressure; DBP, diastolic blood pressure; BSA, body surface area; OHCA, out-of-hospital cardiac arrest; sx, symptoms; LBBB, left bundle branch block; LVEF, left ventricular ejection fraction; LVEDD, left ventricular end-diastolic diameter; HT, hypertension; OSAS, obstructive sleep apnea syndrome; EMB, endomyocardial biopsy; PVB19, Parvovirus B19; HHV6, human herpes virus-6; EBV, Ebstein-Barr virus; Htx, heart transplantation; Life Threat. Arrhythmia, life-threatening arrhythmia; CEP, combined end-pointSupplemental Table 2. Overview of 18 identified mutations in 16 patients of 213 index patients with dilated cardiomyopathyGeneNucleotide changeAmino acid changeNo. of index patientsReferences in online appendixMAF Add evidence in own MUMC labMYH7c.4498C>Tp.(Arg1500Trp)1PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5LYXJra2FpbmVuPC9BdXRob3I+PFllYXI+MjAwNDwvWWVh

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ADDIN EN.CITE.DATA (36)BNotn.a.PLNc.40_42delAGAp.(Arg14del)2 ADDIN EN.CITE <EndNote><Cite><Author>DeWitt</Author><Year>2006</Year><RecNum>86</RecNum><DisplayText>(44)</DisplayText><record><rec-number>86</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">86</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>DeWitt, M. M.</author><author>MacLeod, H. M.</author><author>Soliven, B.</author><author>McNally, E. M.</author></authors></contributors><auth-address>Department to Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois, USA.</auth-address><titles><title>Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy</title><secondary-title>J Am Coll Cardiol</secondary-title><alt-title>Journal of the American College of Cardiology</alt-title></titles><periodical><full-title>J Am Coll Cardiol</full-title><abbr-1>Journal of the American College of Cardiology</abbr-1></periodical><alt-periodical><full-title>J Am Coll Cardiol</full-title><abbr-1>Journal of the American College of Cardiology</abbr-1></alt-periodical><pages>1396-8</pages><volume>48</volume><number>7</number><keywords><keyword>Age of Onset</keyword><keyword>Aged</keyword><keyword>Calcium-Binding Proteins/*genetics</keyword><keyword>Cardiomyopathy, Dilated/*genetics/pathology</keyword><keyword>Cohort Studies</keyword><keyword>DNA Mutational Analysis</keyword><keyword>Female</keyword><keyword>Humans</keyword><keyword>Male</keyword><keyword>Middle Aged</keyword><keyword>Mutation</keyword><keyword>Phenotype</keyword></keywords><dates><year>2006</year><pub-dates><date>Oct 3</date></pub-dates></dates><isbn>1558-3597 (Electronic)&#xD;0735-1097 (Linking)</isbn><accession-num>17010801</accession-num><urls><related-urls><url>;(37)Notn.a.SCN5Ac.2482C>Tp.(Leu828Phe)1unpublished CNotFunctional characterizedc1858C>Tp.(Arg620Cys)1PEVuZE5vdGU+PENpdGU+PEF1dGhvcj5LYXBwbGluZ2VyPC9BdXRob3I+PFllYXI+MjAxMDwvWWVh

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ADDIN EN.CITE.DATA (38)Notn.a.BAG3c.910C>Tp.(Gln304Ter)1This studyNotn.a.MYPNc.806C>Tp.(Pro269Leu)1This studyNotIg-domain affected in silicoDMDInframe deletion of exon 45 - 55p.Glu2147_Gln2739del1 ADDIN EN.CITE <EndNote><Cite><Author>Hegde</Author><Year>2008</Year><RecNum>88</RecNum><DisplayText>(46)</DisplayText><record><rec-number>88</rec-number><foreign-keys><key app="EN" db-id="rzv9xws0qvd59re5z2spfrx55afxvzexva99">88</key></foreign-keys><ref-type name="Journal Article">17</ref-type><contributors><authors><author>Hegde, M. R.</author><author>Chin, E. L.</author><author>Mulle, J. G.</author><author>Okou, D. T.</author><author>Warren, S. T.</author><author>Zwick, M. E.</author></authors></contributors><auth-address>Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA. mhegde@genetics.emory.edu</auth-address><titles><title>Microarray-based mutation detection in the dystrophin gene</title><secondary-title>Hum Mutat</secondary-title><alt-title>Human mutation</alt-title></titles><periodical><full-title>Hum Mutat</full-title><abbr-1>Human mutation</abbr-1></periodical><alt-periodical><full-title>Hum Mutat</full-title><abbr-1>Human mutation</abbr-1></alt-periodical><pages>1091-9</pages><volume>29</volume><number>9</number><keywords><keyword>Dystrophin/*genetics</keyword><keyword>Female</keyword><keyword>Gene Duplication</keyword><keyword>Genotype</keyword><keyword>Humans</keyword><keyword>Male</keyword><keyword>Molecular Diagnostic Techniques/methods</keyword><keyword>Muscular Dystrophy, Duchenne/*diagnosis</keyword><keyword>*Mutation</keyword><keyword>Nucleic Acid Hybridization/*methods</keyword><keyword>Oligonucleotide Array Sequence Analysis/*methods</keyword><keyword>Sequence Deletion</keyword></keywords><dates><year>2008</year><pub-dates><date>Sep</date></pub-dates></dates><isbn>1098-1004 (Electronic)&#xD;1059-7794 (Linking)</isbn><accession-num>18663755</accession-num><urls><related-urls><url>;(39)NotInframe deletion of exon 45-55MITm.15546A>Gp.(His267Arg)1This studyNot (in mtDB or mtSNP)Cytochrome B, heteroplasmic in skeletal muscle, urine, blood-240326114315Abbreviations:MAF: Allele frequencies present in Exome sequencing project (EVS) variants (MAF), or present in Human mitochondrial genome database (mtDB or mtSNP)A: DCM phenotype without signs of (end-stage) HCM, and presence of HHV6 inflammatory cardiomyopathy according to EMB. B: both DCM phenotype without signs of (end-stage) HCMC: functionally characterized, data not shown (available upon request, abstract presented at Heart Rhythm 2012)00Abbreviations:MAF: Allele frequencies present in Exome sequencing project (EVS) variants (MAF), or present in Human mitochondrial genome database (mtDB or mtSNP)A: DCM phenotype without signs of (end-stage) HCM, and presence of HHV6 inflammatory cardiomyopathy according to EMB. B: both DCM phenotype without signs of (end-stage) HCMC: functionally characterized, data not shown (available upon request, abstract presented at Heart Rhythm 2012)Supplemental Table 3. Echocardiographic measurements of patients with or without left ventricular reversed remodeling after a mean of 12 months. Echo FUN=198LVRR- (A)N =128LVRR+ (B)N = 70P valueA vs BBaseline echo LVEF29±1132±1023±9<0.001 LVEDD62±860±866±8<0.001 LVESD53±1049±1058±9<0.001 LVEDDI40±7,540±742±80.08 IVST8.7±1.48.5±1.49±1.4<0.05 PWT8.8±1.48.6±1.49.1±1.30.009 LV-mass234±74216±71267±69<0.001 LV-mass index152±45143±42169±44<0.001 E/A1.2±0.71.1±0.71.4±0.80.08Follow-up echo (12 months) LVEF40±1137±1046±9<0.001 LVEDD57±859±854±6<0.001 LVESD46±948±942±7<0.001 LVEDDI38±7.039±734±6<0.001 IVST8.7±1.38.5±1.29.3±1.3<0.001 PWT8.7±1.38.5±1.29.1±1.3<0.001 LV-mass201±63203±69196±510.47 LV-mass index101±31104±3397±210.10 E/A0.9±0.41.0±0.41.0±0.30.57-18542091440Abbreviations: Echo FU, echo follow-up; LVRR-, no presence of left-ventricular reversed remodeling; LVRR+, presence of left-ventricular reversed remodeling; LVEF, left ventricular ejection fraction; LVEDD, left ventricular end-diastolic diameter; LVESD, left ventricular end-systolic diameter; LVEDDI, indexed left ventricular end-diastolic diameter; IVST, interventricular septum thickness; PWT, posterior wall thickness; LV, left ventricular 00Abbreviations: Echo FU, echo follow-up; LVRR-, no presence of left-ventricular reversed remodeling; LVRR+, presence of left-ventricular reversed remodeling; LVEF, left ventricular ejection fraction; LVEDD, left ventricular end-diastolic diameter; LVESD, left ventricular end-systolic diameter; LVEDDI, indexed left ventricular end-diastolic diameter; IVST, interventricular septum thickness; PWT, posterior wall thickness; LV, left ventricular Supplemental Figure 1.Supplemental Figure 2. Supplemental Figure 3. ................
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