{"id":"https://openalex.org/W2395541334","doi":null,"title":"[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].","display_name":"[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].","publication_year":2004,"publication_date":"2004-06-01","ids":{"openalex":"https://openalex.org/W2395541334","mag":"2395541334","pmid":"https://pubmed.ncbi.nlm.nih.gov/15293763"},"language":"ja","primary_location":{"id":"pmid:15293763","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15293763","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":"Rinsho shinkeigaku = Clinical neurology","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109933447","display_name":"Satoshi Kuru","orcid":"https://orcid.org/0000-0002-1149-4881","observed_orcids":["https://orcid.org/0000-0002-1149-4881"]},"institutions":[{"id":"https://openalex.org/I4405283534","display_name":"National Hospital Organization Suzuka National Hospital","ror":"https://ror.org/01v5eg061","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210137409","https://openalex.org/I4405283534"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Satoshi Kuru","raw_affiliation_strings":["Department of Neurology, Suzuka National Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Suzuka National Hospital","institution_ids":["https://openalex.org/I4405283534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110152473","display_name":"Fumihiko Yasuma","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Fumihiko Yasuma","raw_affiliation_strings":["National Hospital Organization, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital Organization, Japan","institution_ids":["https://openalex.org/I4210137409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004425089","display_name":"Tadashi Wakayama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tadashi Wakayama","raw_affiliation_strings":["Nagoya University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nagoya University","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014145107","display_name":"Seigo Kimura","orcid":"https://orcid.org/0000-0001-6382-6908","observed_orcids":["https://orcid.org/0000-0001-6382-6908"]},"institutions":[{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Seigo Kimura","raw_affiliation_strings":["Nagoya University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nagoya University","institution_ids":["https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110773403","display_name":"Masaaki Konagaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210137409","display_name":"National Hospital Organization","ror":"https://ror.org/03ntccx93","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masaaki Konagaya","raw_affiliation_strings":["National Hospital Organization, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Hospital Organization, Japan","institution_ids":["https://openalex.org/I4210137409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073117349","display_name":"Masashi Aoki","orcid":"https://orcid.org/0000-0001-7284-1069","observed_orcids":["https://orcid.org/0000-0001-7284-1069"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Masashi Aoki","raw_affiliation_strings":["MED - Medical Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MED - Medical Sciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100765771","display_name":"Masaki Tanabe","orcid":"https://orcid.org/0009-0009-9626-6332","observed_orcids":["https://orcid.org/0009-0009-9626-6332","https://orcid.org/0009-0008-4806-7876","https://orcid.org/0000-0002-6398-5965"]},"institutions":[{"id":"https://openalex.org/I178574317","display_name":"Mie University","ror":"https://ror.org/01529vy56","country_code":"JP","type":"education","lineage":["https://openalex.org/I178574317"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masaki Tanabe","raw_affiliation_strings":["Mie University ,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mie University ,","institution_ids":["https://openalex.org/I178574317"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103405326","display_name":"Toshiaki Takahashi","orcid":"https://orcid.org/0009-0001-6751-7309","observed_orcids":["https://orcid.org/0009-0001-6751-7309"]},"institutions":[{"id":"https://openalex.org/I4210094176","display_name":"Sendai Nishitaga National Hospital","ror":"https://ror.org/00gahk913","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210094176","https://openalex.org/I4210137409"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Toshiaki Takahashi","raw_affiliation_strings":["Nishitaga National Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nishitaga National Hospital","institution_ids":["https://openalex.org/I4210094176"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.5847,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.56700935,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"44","issue":"6","first_page":"375","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8184000253677368,"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"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8184000253677368,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.15760000050067902,"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":0.00279999990016222,"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/limb-girdle-muscular-dystrophy-type-2b","display_name":"limb-girdle muscular dystrophy type 2B","score":0.9890000224113464},{"id":"https://openalex.org/keywords/dysferlinopathy","display_name":"dysferlinopathy","score":0.9300000071525574},{"id":"https://openalex.org/keywords/dysferlin-deficiency","display_name":"dysferlin deficiency","score":0.8309999704360962},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.7519999742507935},{"id":"https://openalex.org/keywords/secondary-cardiomyopathy","display_name":"secondary cardiomyopathy","score":0.8119999766349792},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8600000143051147},{"id":"https://openalex.org/keywords/muscle-weakness","display_name":"muscle weakness","score":0.49000000953674316},{"id":"https://openalex.org/keywords/serum-creatine-kinase","display_name":"serum creatine kinase","score":0.6890000104904175},{"id":"https://openalex.org/keywords/cardiac-monitoring","display_name":"cardiac monitoring","score":0.5649999976158142},{"id":"https://openalex.org/keywords/ventricular-dilation","display_name":"ventriculomegaly","score":0.6069999933242798}],"concepts":[{"id":"https://openalex.org/C37113945","wikidata":"https://www.wikidata.org/wiki/Q14885337","display_name":"Dysferlin","level":3,"score":0.9575709104537964},{"id":"https://openalex.org/C199096232","wikidata":"https://www.wikidata.org/wiki/Q1545001","display_name":"Sarcolemma","level":3,"score":0.7378584146499634},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.729438304901123},{"id":"https://openalex.org/C2778649560","wikidata":"https://www.wikidata.org/wiki/Q1531322","display_name":"Limb-girdle muscular dystrophy","level":4,"score":0.7226273417472839},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6778606176376343},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.6154043674468994},{"id":"https://openalex.org/C2781425419","wikidata":"https://www.wikidata.org/wiki/Q201363","display_name":"Biceps","level":2,"score":0.5533146262168884},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5087347626686096},{"id":"https://openalex.org/C2779764123","wikidata":"https://www.wikidata.org/wiki/Q7972881","display_name":"Wasting","level":2,"score":0.45247262716293335},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.44016820192337036},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.42674919962882996},{"id":"https://openalex.org/C2778921608","wikidata":"https://www.wikidata.org/wiki/Q2002035","display_name":"Ventricle","level":2,"score":0.41674935817718506},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.4147518575191498},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3172360062599182},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2705080807209015},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.19758397340774536},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.12255898118019104},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.11437547206878662},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09614324569702148},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09115004539489746}],"mesh":[{"descriptor_ui":"D000073939","descriptor_name":"Dysferlin","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D009124","descriptor_name":"Muscle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:15293763","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15293763","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":"Rinsho shinkeigaku = Clinical neurology","raw_type":"Case Reports"},{"id":"mag:2395541334","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15293763","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3089620521","https://openalex.org/W2467966388","https://openalex.org/W2144611430","https://openalex.org/W2145659187","https://openalex.org/W2803278585","https://openalex.org/W2051937933","https://openalex.org/W4317821188","https://openalex.org/W69137100","https://openalex.org/W4313704537","https://openalex.org/W2328081028"],"abstract_inverted_index":{"A":[0],"57-year-old":[1],"woman":[2],"first":[3],"noticed":[4],"difficulty":[5],"in":[6,21,50,93],"walking":[7],"at":[8],"the":[9,22,29,42,53],"age":[10],"of":[11,28,41,48],"34":[12],"years,":[13],"and":[14,19,25,52,76],"since":[15],"then":[16],"muscle":[17,45],"wasting":[18],"weakness":[20],"lower":[23],"limbs":[24,31],"proximal":[26],"portion":[27],"upper":[30],"had":[32],"progressed":[33],"slowly.":[34],"Serum":[35],"CK":[36],"was":[37],"elevated.":[38],"Immunohistochemical":[39],"study":[40],"biceps":[43],"brachii":[44],"showed":[46],"deficiency":[47],"dysferlin":[49,54],"sarcolemma,":[51],"gene":[55],"analysis":[56],"disclosed":[57],"3370":[58],"G-->T":[59],"missense":[60],"mutation.":[61],"These":[62],"findings":[63],"led":[64],"us":[65],"to":[66,83],"diagnose":[67],"her":[68],"as":[69],"LGMD2B.":[70],"Moreover":[71],"echocardiogram":[72],"revealed":[73],"ventricular":[74],"enlargement":[75],"diffuse":[77],"hypokinesia":[78],"suggesting":[79],"secondary":[80],"cardiomyopathy":[81],"atributable":[82],"muscular":[84],"dystrophy.":[85],"Careful":[86],"cardiac":[87],"monitoring":[88],"should":[89],"be":[90],"carried":[91],"out":[92],"dysferlinopathy":[94],"patients.":[95]},"counts_by_year":[{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}