{"id":"https://openalex.org/W1608405154","doi":null,"title":"Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.","display_name":"Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.","publication_year":1996,"publication_date":"1996-10-01","ids":{"openalex":"https://openalex.org/W1608405154","mag":"1608405154","pmid":"https://pubmed.ncbi.nlm.nih.gov/8808603","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914810"},"language":"en","primary_location":{"id":"pmid:8808603","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808603","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":"American journal of human genetics","raw_type":"Journal Article"},"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/PMC1914810/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016215509","display_name":"Tracey Weiler","orcid":"https://orcid.org/0000-0003-4662-4495","observed_orcids":["https://orcid.org/0000-0003-4662-4495"]},"institutions":[{"id":"https://openalex.org/I46247651","display_name":"University of Manitoba","ror":"https://ror.org/02gfys938","country_code":"CA","type":"education","lineage":["https://openalex.org/I46247651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"T Weiler","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Canada","institution_ids":["https://openalex.org/I46247651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039733240","display_name":"Cheryl R. Greenberg","orcid":"https://orcid.org/0000-0002-4741-8442","observed_orcids":["https://orcid.org/0000-0002-4741-8442"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C R Greenberg","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037721169","display_name":"Edward G. Nylen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Nylen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110071483","display_name":"William Halliday","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W Halliday","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"K Morgan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Morgan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055215812","display_name":"D Eggertson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D Eggertson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5024005101","display_name":"Klaus Wrogemann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Wrogemann","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":2.8489,"has_fulltext":false,"cited_by_count":88,"citation_normalized_percentile":{"value":0.91779204,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"59","issue":"4","first_page":"872","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":0.9922000169754028,"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":0.9922000169754028,"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":0.002899999963119626,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.0007999999797903001,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/limb-girdle-muscular-dystrophy","display_name":"limb-girdle muscular dystrophy","score":0.9760000109672546},{"id":"https://openalex.org/keywords/miyoshi-myopathy","display_name":"Miyoshi myopathy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/limb-girdle-muscular-dystrophy-type-2b","display_name":"limb-girdle muscular dystrophy type 2B","score":0.9649999737739563},{"id":"https://openalex.org/keywords/chromosome-2p","display_name":"chromosome 2p","score":0.753000020980835},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.5249999761581421},{"id":"https://openalex.org/keywords/haplotype-segregation","display_name":"haplotype segregation","score":0.8379999995231628},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8740000128746033},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.5429999828338623},{"id":"https://openalex.org/keywords/clinical-phenotype-variability","display_name":"clinical phenotype variability","score":0.6290000081062317},{"id":"https://openalex.org/keywords/proximal-myopathy","display_name":"proximal myopathy","score":0.847000002861023}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7619993686676025},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6999720931053162},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6902197003364563},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.6362330317497253},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6353412866592407},{"id":"https://openalex.org/C2778649560","wikidata":"https://www.wikidata.org/wiki/Q1531322","display_name":"Limb-girdle muscular dystrophy","level":4,"score":0.5700641870498657},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5582773685455322},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.5060831904411316},{"id":"https://openalex.org/C37113945","wikidata":"https://www.wikidata.org/wiki/Q14885337","display_name":"Dysferlin","level":3,"score":0.4865383207798004},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.46858710050582886},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.46192190051078796},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.41952672600746155},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.34967607259750366},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16380274295806885},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10464459657669067},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002170","descriptor_name":"Canada","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002889","descriptor_name":"Chromosomes, Human, Pair 2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006238","descriptor_name":"Haploidy","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","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":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044467","descriptor_name":"American Indian or Alaska Native","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmid:8808603","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808603","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1914810","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914810/","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":"Am J Hum Genet","raw_type":"Text"},{"id":"mag:1608405154","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8808603","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:1914810","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914810/","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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":35,"referenced_works":["https://openalex.org/W120968873","https://openalex.org/W949488302","https://openalex.org/W1507831787","https://openalex.org/W1538524809","https://openalex.org/W1563673113","https://openalex.org/W1572657719","https://openalex.org/W1604929717","https://openalex.org/W1908481805","https://openalex.org/W1931595111","https://openalex.org/W1933301824","https://openalex.org/W1980243949","https://openalex.org/W1983549760","https://openalex.org/W1987789808","https://openalex.org/W1990005561","https://openalex.org/W2003654592","https://openalex.org/W2010296202","https://openalex.org/W2014509234","https://openalex.org/W2017428806","https://openalex.org/W2018096072","https://openalex.org/W2023577964","https://openalex.org/W2024993897","https://openalex.org/W2039022792","https://openalex.org/W2061833150","https://openalex.org/W2071541341","https://openalex.org/W2073917725","https://openalex.org/W2091317241","https://openalex.org/W2091369841","https://openalex.org/W2093493799","https://openalex.org/W2101631040","https://openalex.org/W2153418912","https://openalex.org/W2167654243","https://openalex.org/W2167922607","https://openalex.org/W2329473893","https://openalex.org/W4285719527","https://openalex.org/W4300647389"],"related_works":["https://openalex.org/W6884926644","https://openalex.org/W2477084151","https://openalex.org/W2071673611","https://openalex.org/W90730783","https://openalex.org/W2108670166","https://openalex.org/W2094444595","https://openalex.org/W2021132479","https://openalex.org/W1999779304","https://openalex.org/W2091151586","https://openalex.org/W2028412234"],"abstract_inverted_index":{"We":[0],"report":[1],"the":[2,26,99,114,117,127,140,159,180,192,210,226],"results":[3],"of":[4,7,21,25,74,77,90,116,168],"our":[5,205],"investigations":[6],"a":[8,33,151],"large,":[9],"inbred,":[10],"aboriginal":[11],"Canadian":[12],"kindred":[13],"with":[14,42,46,62,94,158],"nine":[15],"muscular":[16,49,68],"dystrophy":[17,50],"patients.":[18],"The":[19],"ancestry":[20],"all":[22,131],"but":[23],"two":[24,53,146,165,181],"carrier":[27],"parents":[28],"could":[29],"be":[30,132],"traced":[31],"to":[32,108,225],"founder":[34],"couple,":[35],"seven":[36],"generations":[37],"back.":[38],"Seven":[39],"patients":[40,54,129],"presented":[41],"proximal":[43],"myopathy":[44,64],"consistent":[45,61,93],"limb":[47],"girdle-type":[48],"(LGMD),":[51],"whereas":[52],"manifested":[55],"predominantly":[56],"distal":[57],"wasting":[58],"and":[59,81,98,184,194,202,215,221],"weakness":[60],"Miyoshi":[63],"(distal":[65],"autosomal":[66,95],"recessive":[67,96],"dystrophy)":[69],"(MM).":[70],"Age":[71],"at":[72],"onset":[73],"symptoms,":[75],"degree":[76],"creatine":[78],"kinase":[79],"elevation,":[80],"muscle":[82],"histology":[83],"were":[84],"similar":[85],"in":[86,171,204,213],"both":[87,219],"phenotypes.":[88,196],"Segregation":[89],"LGMD/MM":[91],"is":[92,102],"inheritance,":[97],"putative":[100],"locus":[101,119,142],"significantly":[103],"linked":[104],"(LOD":[105],"scores":[106],">3.0)":[107],"six":[109],"marker":[110],"loci":[111],"that":[112,126,162,200,216],"span":[113],"region":[115,153],"LGMD2B":[118,214],"on":[120],"chromosome":[121],"2p.":[122],"Our":[123],"initial":[124],"hypothesis":[125],"affected":[128],"would":[130],"homozygous":[133],"by":[134,155,209],"descent":[135],"for":[136],"microsatellite":[137],"markers":[138],"surrounding":[139],"disease":[141],"was":[143,175],"rejected.":[144],"Rather,":[145],"different":[147,182],"core":[148],"haplotypes,":[149],"encompassing":[150],"4-cM":[152],"spanned":[154],"D2S291-D2S145-D2S286,":[156],"segregated":[157],"disease,":[160],"indicating":[161],"there":[163],"are":[164,207],"mutant":[166],"alleles":[167],"independent":[169],"origin":[170],"this":[172],"kindred.":[173],"There":[174],"no":[176],"association,":[177],"however,":[178],"between":[179,191],"haplotypes":[183],"clinical":[185,227],"variability;":[186],"they":[187],"do":[188],"not":[189],"distinguish":[190],"LGMD":[193,201],"MM":[195,203],"Thus,":[197],"we":[198],"conclude":[199],"population":[206],"caused":[208],"same":[211],"mutation":[212],"additional":[217],"factors,":[218],"genetic":[220],"nongenetic,":[222],"must":[223],"contribute":[224],"phenotype.":[228]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}