{"id":"https://openalex.org/W2320970146","doi":"https://doi.org/10.1056/nejm199204233261703","title":"Characteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy","display_name":"Characteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy","publication_year":1992,"publication_date":"1992-04-23","ids":{"openalex":"https://openalex.org/W2320970146","doi":"https://doi.org/10.1056/nejm199204233261703","mag":"2320970146","pmid":"https://pubmed.ncbi.nlm.nih.gov/1552912"},"language":"en","primary_location":{"id":"doi:10.1056/nejm199204233261703","doi":"https://doi.org/10.1056/nejm199204233261703","is_oa":true,"landing_page_url":"https://doi.org/10.1056/nejm199204233261703","pdf_url":"https://www.nejm.org/doi/pdf/10.1056/NEJM199204233261703?articleTools=true","source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nejm.org/doi/pdf/10.1056/NEJM199204233261703?articleTools=true","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033758288","display_name":"Hugh C Watkins","orcid":"https://orcid.org/0000-0002-5287-9016","observed_orcids":["https://orcid.org/0000-0002-5287-9016"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hugh Watkins","raw_affiliation_strings":["Cardiology Division, Brigham and Women's Hospital, Boston, MA","Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","Department of Cardiological Sciences, St. George's Hospital Medical School, London, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiology Division, Brigham and Women's Hospital, Boston, MA","institution_ids":["https://openalex.org/I1283280774"]},{"raw_affiliation_string":"Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Cardiological Sciences, St. George's Hospital Medical School, London, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050240892","display_name":"Anthony Rosenzweig","orcid":"https://orcid.org/0000-0001-6387-0386","observed_orcids":["https://orcid.org/0000-0001-6387-0386"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anthony Rosenzweig","raw_affiliation_strings":["Cardiac Unit, Massachusetts General Hospital, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiac Unit, Massachusetts General Hospital, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024377553","display_name":"Dar\u2010San Hwang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210091773","display_name":"Taichung Veterans General Hospital","ror":"https://ror.org/00e87hq62","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210091773"]}],"countries":["TW","US"],"is_corresponding":false,"raw_author_name":"Dar-San Hwang","raw_affiliation_strings":["Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","Division of Cardiology, Taichung Veterans General Hospital, Taichung, Taiwan, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Cardiology, Taichung Veterans General Hospital, Taichung, Taiwan, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210091773"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113730874","display_name":"Tatjana Levi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tatjana Levi","raw_affiliation_strings":["Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","Howard Hughes Medical Institute, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006851261","display_name":"William John McKenna","orcid":"https://orcid.org/0000-0001-7994-2460","observed_orcids":["https://orcid.org/0000-0001-7994-2460"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William McKenna","raw_affiliation_strings":["Department of Cardiological Sciences, St. George's Hospital Medical School, London, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiological Sciences, St. George's Hospital Medical School, London, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005091829","display_name":"Christine E. Seidman","orcid":"https://orcid.org/0000-0001-6380-1209","observed_orcids":["https://orcid.org/0000-0001-6380-1209"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Christine E. Seidman","raw_affiliation_strings":["Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021544196","display_name":"Jonathan G. Seidman","orcid":"https://orcid.org/0000-0002-9082-3566","observed_orcids":["https://orcid.org/0000-0002-9082-3566"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J.G. Seidman","raw_affiliation_strings":["Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","Howard Hughes Medical Institute, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Harvard Medical School, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Howard Hughes Medical Institute, Boston, . Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 25 Shattuck St., Boston, MA 02115","institution_ids":["https://openalex.org/I1344073410","https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":37.4551,"has_fulltext":false,"cited_by_count":741,"citation_normalized_percentile":{"value":0.99898789,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"326","issue":"17","first_page":"1108","last_page":"1114"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-hypertrophic-cardiomyopathy","display_name":"familial hypertrophic cardiomyopathy","score":0.9959999918937683},{"id":"https://openalex.org/keywords/mutation-location","display_name":"mutation location","score":0.30799999833106995},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.7379999756813049},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.8040000200271606},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.8190000057220459},{"id":"https://openalex.org/keywords/ribonuclease-protection-assay","display_name":"ribonuclease protection assay","score":0.7739999890327454}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.9236609935760498},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.6733523607254028},{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.5998132228851318},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5939857959747314},{"id":"https://openalex.org/C6997183","wikidata":"https://www.wikidata.org/wiki/Q271727","display_name":"Myosin","level":2,"score":0.5516192317008972},{"id":"https://openalex.org/C83482732","wikidata":"https://www.wikidata.org/wiki/Q18029742","display_name":"MYH6","level":5,"score":0.5202266573905945},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5191882848739624},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.5164799690246582},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.49371418356895447},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4501603841781616},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.4436696171760559},{"id":"https://openalex.org/C2777468819","wikidata":"https://www.wikidata.org/wiki/Q173670","display_name":"Arginine","level":3,"score":0.41456320881843567},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.35659611225128174},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3200450539588928},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30981212854385376},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.2509263753890991},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2400026023387909},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.13402435183525085},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.10312268137931824},{"id":"https://openalex.org/C53345823","wikidata":"https://www.wikidata.org/wiki/Q5531554","display_name":"Gene isoform","level":3,"score":0.09722265601158142}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002312","descriptor_name":"Cardiomyopathy, Hypertrophic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002312","descriptor_name":"Cardiomyopathy, Hypertrophic","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009218","descriptor_name":"Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1056/nejm199204233261703","doi":"https://doi.org/10.1056/nejm199204233261703","is_oa":true,"landing_page_url":"https://doi.org/10.1056/nejm199204233261703","pdf_url":"https://www.nejm.org/doi/pdf/10.1056/NEJM199204233261703?articleTools=true","source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:1552912","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1552912","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The New England journal of medicine","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1519519","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1519519/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"NEW ENGLAND JOURNAL OF MEDICINE , 326 (17) pp. 1108-1114. (1992)","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1056/nejm199204233261703","doi":"https://doi.org/10.1056/nejm199204233261703","is_oa":true,"landing_page_url":"https://doi.org/10.1056/nejm199204233261703","pdf_url":"https://www.nejm.org/doi/pdf/10.1056/NEJM199204233261703?articleTools=true","source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9907000064849854}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1007087863","display_name":null,"funder_award_id":"HL-02228","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8081639802","display_name":"DEVELOPMENT OF STABLE CARDIAC CELL LINES","funder_award_id":"R29HL041474","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G8438660648","display_name":"MOLECULAR CAUSE OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY","funder_award_id":"R01HL046320","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2320970146.pdf","grobid_xml":"https://content.openalex.org/works/W2320970146.grobid-xml"},"referenced_works_count":34,"referenced_works":["https://openalex.org/W67625574","https://openalex.org/W1563098722","https://openalex.org/W1609528353","https://openalex.org/W1964556600","https://openalex.org/W1968760675","https://openalex.org/W1973800266","https://openalex.org/W1978131266","https://openalex.org/W1981685027","https://openalex.org/W1987191674","https://openalex.org/W1989899593","https://openalex.org/W1991487165","https://openalex.org/W1992115525","https://openalex.org/W1995131589","https://openalex.org/W1999251970","https://openalex.org/W2005262412","https://openalex.org/W2016811958","https://openalex.org/W2017428806","https://openalex.org/W2023322190","https://openalex.org/W2037729914","https://openalex.org/W2039067014","https://openalex.org/W2042562951","https://openalex.org/W2045868349","https://openalex.org/W2058144119","https://openalex.org/W2071229616","https://openalex.org/W2071905863","https://openalex.org/W2080199804","https://openalex.org/W2114072064","https://openalex.org/W2136883754","https://openalex.org/W2171515720","https://openalex.org/W2342124050","https://openalex.org/W3041047318","https://openalex.org/W4240116065","https://openalex.org/W4285719527","https://openalex.org/W4301742519"],"related_works":["https://openalex.org/W2011407953","https://openalex.org/W2068062821","https://openalex.org/W2380384215","https://openalex.org/W2263982707","https://openalex.org/W2159830386","https://openalex.org/W2074618386","https://openalex.org/W7100766231","https://openalex.org/W2032522825","https://openalex.org/W2073170082","https://openalex.org/W7097196503"],"abstract_inverted_index":{"BACKGROUND:":[0],"Familial":[1],"hypertrophic":[2,78,249,272],"cardiomyopathy":[3],"is":[4,82],"characterized":[5],"by":[6,99],"a":[7,14,58,83,145,164,204,225,277,291],"variable":[8],"degree":[9],"of":[10,17,39,48,70,92,107,132,144,157,169,180,247,269,290,309],"myocardial":[11],"hypertrophy":[12],"and":[13,90,153],"wide":[15],"range":[16],"symptoms.":[18],"Different":[19,252],"mutations":[20,44,50,98,120,139,161,175,238,254],"in":[21,31,112,121,130,150,163,166,227,243,255,265,284],"the":[22,37,46,64,88,97,108,122,133,142,151,158,167,170,178,181,218,256,288,306,310],"beta":[23,65,123,257],"cardiac":[24,66,124,258],"myosin":[25,43,67,116,125,259],"heavy-chain":[26,68,126,260],"gene":[27,127,261],"have":[28],"been":[29],"identified":[30,129,264],"three":[32],"affected":[33,319],"families.":[34,135],"However,":[35,234],"neither":[36],"proportion":[38],"cases":[40],"attributable":[41],"to":[42,190,198,300],"nor":[45],"effects":[47],"different":[49,237],"on":[51],"clinical":[52,105,245],"outcome":[53],"are":[54],"known.":[55],"METHODS:":[56],"Using":[57],"ribonuclease":[59],"protection":[60],"assay,":[61],"we":[62,303],"screened":[63],"genes":[69],"probands":[71],"from":[72,188,196],"25":[73,134],"unrelated":[74],"families":[75,113,270],"with":[76,114,174,217,236,271],"familial":[77,248],"cardiomyopathy;":[79],"this":[80],"assay":[81],"sensitive":[84],"method":[85],"for":[86],"detecting":[87],"presence":[89],"location":[91,289],"mutations.":[93,117],"We":[94],"further":[95],"defined":[96],"analyzing":[100],"their":[101,244],"nucleotide":[102,193,201],"sequences.":[103],"The":[104],"features":[106],"disease":[109],"were":[110,128,137],"compared":[111],"various":[115],"RESULTS:":[118],"Seven":[119],"12":[131],"All":[136],"missense":[138,253],"(i.e.,":[140],"causing":[141],"substitution":[143],"single":[146],"amino":[147,171,183],"acid)":[148],"clustered":[149],"head":[152],"head-rod":[154],"junction":[155],"regions":[156],"molecule.":[159],"Six":[160],"resulted":[162],"change":[165,226],"charge":[168,179,228],"acid.":[172],"Patients":[173],"that":[176,187,221,305],"changed":[177],"altered":[182],"acid":[184],"(such":[185],"as":[186],"arginine":[189,197],"glutamine":[191],"at":[192,200,211],"403":[194],"or":[195,293],"cysteine":[199],"453)":[202],"had":[203,230],"significantly":[205],"shorter":[206],"life":[207],"expectancy":[208],"(mean":[209],"age":[210],"death,":[212],"33":[213],"years),":[214],"whereas":[215],"patients":[216,235],"one":[219],"mutation":[220,292,312],"did":[222,239],"not":[223,240],"produce":[224],"(Val606Met)":[229],"nearly":[231],"normal":[232],"survival.":[233],"differ":[241],"appreciably":[242],"manifestations":[246],"cardiomyopathy.":[250,273],"CONCLUSIONS:":[251],"can":[262,281,313],"be":[263,282],"approximately":[266],"50":[267],"percent":[268],"In":[274],"those":[275],"families,":[276],"definite":[278],"genetic":[279],"diagnosis":[280],"made":[283],"all":[285],"members.":[286,320],"Since":[287],"its":[294],"DNA-sequence":[295],"alteration":[296],"(or":[297],"both)":[298],"appears":[299],"influence":[301],"survival,":[302],"suggest":[304],"precise":[307],"definition":[308],"disease-causing":[311],"provide":[314],"important":[315],"prognostic":[316],"information":[317],"about":[318]},"counts_by_year":[{"year":2026,"cited_by_count":14},{"year":2025,"cited_by_count":14},{"year":2024,"cited_by_count":10},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":13},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":10},{"year":2017,"cited_by_count":12},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":13},{"year":2014,"cited_by_count":23},{"year":2013,"cited_by_count":16},{"year":2012,"cited_by_count":18}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
