{"id":"https://openalex.org/W2195149152","doi":null,"title":"Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.","display_name":"Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.","publication_year":2009,"publication_date":"2009-12-01","ids":{"openalex":"https://openalex.org/W2195149152","mag":"2195149152","pmid":"https://pubmed.ncbi.nlm.nih.gov/20476667","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2858945"},"language":"en","primary_location":{"id":"pmid:20476667","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20476667","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":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2858945/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016364375","display_name":"AY Mejaddam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"A Y Mejaddam","raw_affiliation_strings":["Center for Molecular Medicine and Department of Woman and Child Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Molecular Medicine and Department of Woman and Child Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden","institution_ids":["https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013827091","display_name":"Inger Nennesmo","orcid":"https://orcid.org/0009-0000-0871-1147","observed_orcids":["https://orcid.org/0009-0000-0871-1147"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Nennesmo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5102934776","display_name":"Thomas Sejersen","orcid":"https://orcid.org/0000-0001-5961-7097","observed_orcids":["https://orcid.org/0000-0001-5961-7097"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T Sejersen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1091,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.42050487,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"28","issue":"3","first_page":"91","last_page":"3"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9750999808311462,"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":0.9750999808311462,"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":0.014100000262260437,"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"}},{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.0034000000450760126,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/centronuclear-myopathy","display_name":"centronuclear myopathy","score":0.9520000219345093},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8700000047683716},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.7480000257492065},{"id":"https://openalex.org/keywords/loss-of-ambulation","display_name":"loss of ambulation","score":0.9089999794960022},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.949999988079071},{"id":"https://openalex.org/keywords/ventilatory-assistance","display_name":"ventilatory assistance","score":0.5759999752044678},{"id":"https://openalex.org/keywords/congenital-myopathy","display_name":"congenital myopathy","score":0.7480000257492065},{"id":"https://openalex.org/keywords/muscle-weakness","display_name":"muscle weakness","score":0.3190000057220459}],"concepts":[{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.8176844120025635},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.7085311412811279},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5986396670341492},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5887681245803833},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5499130487442017},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5476034879684448},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.49534741044044495},{"id":"https://openalex.org/C447327","wikidata":"https://www.wikidata.org/wiki/Q1639798","display_name":"Index case","level":3,"score":0.4940846264362335},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4886801540851593},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.45835888385772705},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3807380497455597},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.34836214780807495},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2957043945789337},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2715160846710205},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24716967344284058},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.19776380062103271},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.12576329708099365},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.11486172676086426}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001707","descriptor_name":"Biopsy, Needle","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020914","descriptor_name":"Myopathies, Structural, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020914","descriptor_name":"Myopathies, Structural, Congenital","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:20476667","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20476667","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":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:2858945","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2858945/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Acta Myol","raw_type":"Text"},{"id":"mag:2195149152","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20476667","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":{"id":"pmh:oai:pubmedcentral.nih.gov:2858945","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2858945/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Acta Myol","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":5,"referenced_works":["https://openalex.org/W2053365501","https://openalex.org/W2108586733","https://openalex.org/W2127803098","https://openalex.org/W2143369277","https://openalex.org/W2169295440"],"related_works":["https://openalex.org/W2132084576","https://openalex.org/W2319573820","https://openalex.org/W2765914416","https://openalex.org/W2137198655","https://openalex.org/W2810770624","https://openalex.org/W2228999809","https://openalex.org/W2756353284","https://openalex.org/W770278945","https://openalex.org/W5389214","https://openalex.org/W2068781628"],"abstract_inverted_index":{"Centronuclear":[0],"myopathy":[1,8],"(CNM)":[2],"is":[3,56],"a":[4,33,57,83,127],"rare":[5],"hereditary":[6],"congenital":[7],"characterized":[9],"by":[10,32],"muscular":[11],"hypotonia":[12],"and":[13,74,113,145],"abnormal":[14],"centralization":[15],"of":[16,36,67,72,94,122,136,143],"nuclei":[17],"in":[18,44,88,110],"muscle":[19,37],"fibers.":[20],"The":[21,92,119],"autosomal":[22],"recessive":[23,63,104],"(AR)":[24],"form":[25],"presents":[26],"from":[27],"birth":[28],"to":[29,99,139],"childhood,":[30],"followed":[31],"mild":[34],"progression":[35],"weakness.":[38],"Despite":[39],"recently":[40],"identified":[41],"genetic":[42,80],"loci":[43],"the":[45,89,95,133],"AR":[46,137],"form,":[47],"genotype-phenotype":[48],"correlations":[49],"are":[50],"poorly":[51],"established.":[52],"Our":[53],"index":[54,96,124],"case":[55,97],"17":[58],"year":[59],"old":[60],"boy":[61],"with":[62],"CNM":[64,105,138],"causing":[65],"loss":[66,142],"ambulation":[68,109,144],"at":[69],"13":[70],"years":[71],"age":[73],"requiring":[75],"ventilatory":[76,117],"assistance":[77],"nightly.":[78],"Recent":[79],"testing":[81],"revealed":[82],"c.1723A":[84,128],">":[85,129],"T":[86,130],"mutation":[87],"BIN1":[90],"gene.":[91],"phenotype":[93],"contrasts":[98],"previously":[100],"published":[101],"cases,":[102],"where":[103],"patients":[106],"have":[107,114],"lost":[108],"their":[111],"20s":[112],"not":[115],"required":[116],"assistance.":[118],"disease":[120],"severity":[121],"our":[123],"case,":[125],"carrying":[126],"mutation,":[131],"widens":[132],"phenotypic":[134],"spectrum":[135],"include":[140],"earlier":[141],"respiratory":[146],"failure.":[147]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}