{"id":"https://openalex.org/W7220915845","doi":"https://doi.org/10.25405/ncl.34193601","title":"Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene","display_name":"Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene","publication_year":2012,"publication_date":"2012-12-31","ids":{"openalex":"https://openalex.org/W7220915845","doi":"https://doi.org/10.25405/ncl.34193601"},"language":"en","primary_location":{"id":"doi:10.25405/ncl.34193601","doi":"https://doi.org/10.25405/ncl.34193601","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34193601","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"ConferenceProceeding"},"volume":null,"type":"conference-paper","is_traditional":true,"indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.25405/ncl.34193601","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053346671","display_name":"Anna S\u00e1rk\u00f6zy","orcid":"https://orcid.org/0000-0002-1353-0583","observed_orcids":["https://orcid.org/0000-0002-1353-0583"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Sarkozy","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043388402","display_name":"Tuomo M. Polvikoski","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Polvikoski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042340180","display_name":"M. Eagle","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Eagle","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105466565","display_name":"H. Lochmueller","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Lochmueller","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157895206","display_name":"Katherine Bushby","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Katherine Bushby","raw_affiliation_strings":["Newcastle University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Newcastle University","institution_ids":["https://openalex.org/I84884186"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023248855","display_name":"Volker W. Straub","orcid":"https://orcid.org/0000-0001-9046-3540","observed_orcids":["https://orcid.org/0000-0001-9046-3540"]},"institutions":[{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Volker Straub","raw_affiliation_strings":["Newcastle University"],"raw_orcid":"https://orcid.org/0000-0001-9046-3540","affiliations":[{"raw_affiliation_string":"Newcastle University","institution_ids":["https://openalex.org/I84884186"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.74446953,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9945999979972839,"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":0.9945999979972839,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.00279999990016222,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0007999999797903001,"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/core-myopathy","display_name":"core myopathy","score":0.7699999809265137},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.9860000014305115},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.9879999756813049},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":0.9919999837875366},{"id":"https://openalex.org/keywords/myh7-gene","display_name":"MYH7 gene","score":0.7990000247955322},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9480000138282776},{"id":"https://openalex.org/keywords/myosin-heavy-chain","display_name":"myosin heavy chain","score":0.6729999780654907},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.4650000035762787},{"id":"https://openalex.org/keywords/skeletal-muscle-disorders","display_name":"skeletal muscle disorders","score":0.421999990940094}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7630000114440918},{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.5924999713897705},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5759000182151794},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4952000081539154},{"id":"https://openalex.org/C2776888751","wikidata":"https://www.wikidata.org/wiki/Q767485","display_name":"Respiratory failure","level":2,"score":0.43880000710487366},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.4000999927520752},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3937999904155731},{"id":"https://openalex.org/C2780955175","wikidata":"https://www.wikidata.org/wiki/Q174857","display_name":"Scoliosis","level":2,"score":0.3831000030040741},{"id":"https://openalex.org/C534529494","wikidata":"https://www.wikidata.org/wiki/Q7891","display_name":"Respiratory system","level":2,"score":0.3749000132083893},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.35420000553131104},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.33820000290870667},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.32600000500679016},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3140000104904175},{"id":"https://openalex.org/C2164484","wikidata":"https://www.wikidata.org/wiki/Q5170150","display_name":"Core (optical fiber)","level":2,"score":0.29789999127388},{"id":"https://openalex.org/C2776178081","wikidata":"https://www.wikidata.org/wiki/Q3286546","display_name":"Respiratory disease","level":3,"score":0.2833999991416931},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.2797999978065491},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2777000069618225},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.2685000002384186},{"id":"https://openalex.org/C2992981700","wikidata":"https://www.wikidata.org/wiki/Q727096","display_name":"Congenital disease","level":2,"score":0.2506999969482422}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.25405/ncl.34193601","doi":"https://doi.org/10.25405/ncl.34193601","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34193601","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"ConferenceProceeding"},{"id":"doi:10.25405/ncl.34193601.v1","doi":"https://doi.org/10.25405/ncl.34193601.v1","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34193601.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"ConferenceProceeding"}],"best_oa_location":{"id":"doi:10.25405/ncl.34193601","doi":"https://doi.org/10.25405/ncl.34193601","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34193601","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"ConferenceProceeding"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1992456285","https://openalex.org/W7221706230","https://openalex.org/W4389438587","https://openalex.org/W4389447018","https://openalex.org/W2936393396","https://openalex.org/W4210867211","https://openalex.org/W2976820735","https://openalex.org/W2070834625","https://openalex.org/W3034513702","https://openalex.org/W7221172370"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-09T00:00:00"}