{"id":"https://openalex.org/W2172201786","doi":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","title":"Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study","display_name":"Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study","publication_year":2000,"publication_date":"2000-02-01","ids":{"openalex":"https://openalex.org/W2172201786","doi":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","mag":"2172201786","pmid":"https://pubmed.ncbi.nlm.nih.gov/10665485"},"language":"en","primary_location":{"id":"doi:10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","doi":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5050280688","display_name":"Kevin M. Flanigan","orcid":"https://orcid.org/0000-0001-6440-3376","observed_orcids":["https://orcid.org/0000-0001-6440-3376"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin M. Flanigan","raw_affiliation_strings":["Program in Neuroscience, University of Utah, Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Neuroscience, University of Utah, Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070774273","display_name":"Lynne M. Kerr","orcid":"https://orcid.org/0000-0001-9102-4996","observed_orcids":["https://orcid.org/0000-0001-9102-4996"]},"institutions":[{"id":"https://openalex.org/I1324574813","display_name":"Primary Children's Hospital","ror":"https://ror.org/053hkmn05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I108785884","https://openalex.org/I1324574813"]},{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lynne Kerr","raw_affiliation_strings":["Department of Neurology, University of Utah, Salt Lake City, UT; Department of Physical Medicine and Rehabilitation, Primary Children's Medical Center, Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Utah, Salt Lake City, UT; Department of Physical Medicine and Rehabilitation, Primary Children's Medical Center, Salt Lake City, UT","institution_ids":["https://openalex.org/I1324574813","https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110332015","display_name":"Mark B. Bromberg","orcid":"https://orcid.org/0000-0003-3230-7130","observed_orcids":["https://orcid.org/0000-0003-3230-7130"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark B. Bromberg","raw_affiliation_strings":["\u2225Department of Neurology, University of Utah, Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u2225Department of Neurology, University of Utah, Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112437842","display_name":"Claire O. Leonard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Claire Leonard","raw_affiliation_strings":["\u2020\u2020Department of Pediatrics, University of Utah, Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u2020\u2020Department of Pediatrics, University of Utah, Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108221737","display_name":"Jay S. Tsuruda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jay Tsuruda","raw_affiliation_strings":["Department of Radiology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115597610","display_name":"Ping Zhang","orcid":"https://orcid.org/0009-0007-1402-0159","observed_orcids":["https://orcid.org/0009-0007-1402-0159"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ping Zhang","raw_affiliation_strings":["Department of Human Genetics, University of Utah; Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Utah; Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110109340","display_name":"Ignacio Gonz\u00e1lez-G\u00f3mez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336910626","display_name":"Children's Hospital Los Angeles","ror":"https://ror.org/00412ts95","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336910626"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ignacio Gonzalez-Gomez","raw_affiliation_strings":["Department of Pathology, Children's Hospital, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Children's Hospital, Los Angeles, CA","institution_ids":["https://openalex.org/I1336910626"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041744228","display_name":"Ronald D. Cohn","orcid":"https://orcid.org/0000-0002-6775-1496","observed_orcids":["https://orcid.org/0000-0002-6775-1496","https://orcid.org/0000-0002-2673-696X"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]},{"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ronald Cohn","raw_affiliation_strings":["Department of Physiology and Biophysics, Department of Neurology Howard Hughes Medical Institute, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, Department of Neurology Howard Hughes Medical Institute, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644","https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085822063","display_name":"Kevin P. Campbell","orcid":"https://orcid.org/0000-0003-2066-5889","observed_orcids":["https://orcid.org/0000-0003-2066-5889"]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]},{"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kevin P. Campbell","raw_affiliation_strings":["Department of Physiology and Biophysics, Department of Neurology Howard Hughes Medical Institute, University of Iowa, Iowa City, IA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology and Biophysics, Department of Neurology Howard Hughes Medical Institute, University of Iowa, Iowa City, IA","institution_ids":["https://openalex.org/I126307644","https://openalex.org/I1344073410"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5105887771","display_name":"Mark Leppert","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark Leppert","raw_affiliation_strings":["Department of Human Genetics, University of Utah; Salt Lake City, UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Utah; Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":1.6749,"has_fulltext":false,"cited_by_count":118,"citation_normalized_percentile":{"value":0.83664575,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"47","issue":"2","first_page":"152","last_page":"161"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9887999892234802,"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":0.9887999892234802,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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":0.0012000000569969416,"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/congenital-muscular-dystrophy","display_name":"congenital muscular dystrophy","score":0.9380000233650208},{"id":"https://openalex.org/keywords/rigid-spine-syndrome","display_name":"rigid spine syndrome","score":0.9900000095367432},{"id":"https://openalex.org/keywords/familial-inheritance","display_name":"familial inheritance","score":0.3449999988079071},{"id":"https://openalex.org/keywords/muscle-biopsy-findings","display_name":"muscle biopsy findings","score":0.6200000047683716},{"id":"https://openalex.org/keywords/laminin-2","display_name":"laminin-2","score":0.7039999961853027},{"id":"https://openalex.org/keywords/dystrophin-glycoprotein-complex","display_name":"dystrophin-glycoprotein complex","score":0.9919999837875366},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":0.6919999718666077},{"id":"https://openalex.org/keywords/respiratory-failure","display_name":"respiratory failure","score":0.8880000114440918},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.6949999928474426},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.5170000195503235}],"concepts":[{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.7288902401924133},{"id":"https://openalex.org/C2779768179","wikidata":"https://www.wikidata.org/wiki/Q1321884","display_name":"Congenital muscular dystrophy","level":3,"score":0.7034203410148621},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.6598719358444214},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6307830810546875},{"id":"https://openalex.org/C127607297","wikidata":"https://www.wikidata.org/wiki/Q11602751","display_name":"Muscle contracture","level":2,"score":0.5900137424468994},{"id":"https://openalex.org/C2780955175","wikidata":"https://www.wikidata.org/wiki/Q174857","display_name":"Scoliosis","level":2,"score":0.48638275265693665},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4663578271865845},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.4541064202785492},{"id":"https://openalex.org/C2778649560","wikidata":"https://www.wikidata.org/wiki/Q1531322","display_name":"Limb-girdle muscular dystrophy","level":4,"score":0.43014830350875854},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.41266167163848877},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.4112561047077179},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3799136281013489},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.37658441066741943},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.3256368041038513},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.2958644926548004},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2591974139213562},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.22206208109855652},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12507832050323486},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10800939798355103},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10008728504180908},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","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":"D005260","descriptor_name":"Female","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","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":"D008297","descriptor_name":"Male","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":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013122","descriptor_name":"Spinal Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D013122","descriptor_name":"Spinal Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D013122","descriptor_name":"Spinal Diseases","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","doi":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","is_oa":false,"landing_page_url":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.0.co;2-u","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"doi:10.1002/1531-8249(200002)47:2<152::aid-ana4>3.3.co;2-l","doi":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.3.co;2-l","is_oa":false,"landing_page_url":"https://doi.org/10.1002/1531-8249(200002)47:2<152::aid-ana4>3.3.co;2-l","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:10665485","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10665485","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":"Annals of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.133.4584","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.133.4584","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.physiology.uiowa.edu/campbell/publications/pdf/266flanigan.pdf","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.49000000953674316,"id":"https://metadata.un.org/sdg/3"},{"display_name":"Gender equality","score":0.4399999976158142,"id":"https://metadata.un.org/sdg/5"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W41324937","https://openalex.org/W139639959","https://openalex.org/W1487741670","https://openalex.org/W1528429662","https://openalex.org/W1964730849","https://openalex.org/W1965998554","https://openalex.org/W1970852649","https://openalex.org/W1980569377","https://openalex.org/W1984420935","https://openalex.org/W1984936338","https://openalex.org/W1986698808","https://openalex.org/W1988276998","https://openalex.org/W1997344395","https://openalex.org/W2000918135","https://openalex.org/W2003111937","https://openalex.org/W2007580007","https://openalex.org/W2017294905","https://openalex.org/W2022070171","https://openalex.org/W2027745468","https://openalex.org/W2030205131","https://openalex.org/W2031949368","https://openalex.org/W2052518004","https://openalex.org/W2052748640","https://openalex.org/W2062088552","https://openalex.org/W2063338911","https://openalex.org/W2067532366","https://openalex.org/W2320712715","https://openalex.org/W2413758276","https://openalex.org/W3147730690","https://openalex.org/W4238915400","https://openalex.org/W6646646790"],"related_works":["https://openalex.org/W2049694241","https://openalex.org/W2024317059","https://openalex.org/W2013210996","https://openalex.org/W2062088552","https://openalex.org/W56014751","https://openalex.org/W7097917189","https://openalex.org/W2086749121","https://openalex.org/W2410611682","https://openalex.org/W2082902810","https://openalex.org/W2396713731"],"abstract_inverted_index":{"Rigid":[0],"spine":[1,88,277],"syndrome":[2,89,112,278,312],"is":[3,30,45,62,232,281,313],"a":[4,12,24,31,47,51,105,134,189,320],"term":[5],"first":[6,78],"proposed":[7],"by":[8,17,142,256,283],"Dubowitz":[9],"to":[10,92,114,188,272,315,341],"describe":[11],"subset":[13],"of":[14,53,109,125,133,191,203,221,237,265,290,325,329],"patients":[15,54],"affected":[16,141,176],"myopathy":[18],"with":[19,55,65,86,213,245,307,319],"early":[20,73,150,154,250],"spinal":[21,28,151],"contractures":[22],"as":[23],"prominent":[25,48,145],"feature.":[26],"While":[27],"rigidity":[29],"nonspecific":[32,184],"feature,":[33],"found":[34],"in":[35,40,50,84,95,148,174,197,251,261,332],"Emery-Dreifuss":[36],"muscular":[37,58,82,258],"dystrophy":[38,83],"and":[39,72,99,122,144,153,165,168,208,218,327],"some":[41],"congenital":[42,57,81],"myopathies,":[43],"it":[44,61],"also":[46],"feature":[49],"group":[52],"merosin-positive":[56],"dystrophy,":[59],"where":[60],"generally":[63],"associated":[64],"stable":[66],"or":[67,162],"only":[68],"slowly":[69,163],"progressive":[70],"weakness":[71,147],"respiratory":[74,169],"insufficiency.":[75],"Recently,":[76],"the":[77,110,131,201,222,238,246,252,262,266,273,297,308,316,336],"locus":[79,279,318,340],"for":[80,216,219,228,287,302],"association":[85],"rigid":[87,276],"was":[90],"mapped":[91],"chromosome":[93,274],"1p35-p36":[94],"consanguineous":[96],"Moroccan,":[97],"Turkish,":[98],"Iranian":[100],"families.":[101],"We":[102],"present":[103],"here":[104],"detailed":[106],"phenotypic":[107],"description":[108],"familial":[111],"linked":[113,314],"this":[115,269,303,311],"locus,":[116],"describing":[117],"4":[118,138],"siblings":[119,139],"(3":[120],"boys":[121],"1":[123],"girl)":[124],"Northern":[126],"European-American":[127],"heritage":[128],"who":[129],"are":[130],"offspring":[132],"nonconsanguineous":[135],"marriage.":[136],"All":[137],"were":[140],"hypotonia":[143],"neck":[146],"infancy,":[149],"rigidity,":[152],"scoliosis.":[155],"After":[156],"initial":[157],"improvement,":[158],"muscle":[159,243],"strength":[160],"stabilizes":[161],"declines,":[164],"skeletal":[166],"deformities":[167],"insufficiency":[170],"supervene.":[171],"Muscle":[172,195],"biopsy":[173,196,230],"an":[175],"child":[177],"at":[178,200,292],"age":[179,202],"9":[180],"months":[181],"revealed":[182,206],"minimal,":[183],"myopathic":[185,210],"changes,":[186,212],"leading":[187],"diagnosis":[190],"\"minimal":[192],"change":[193],"myopathy.\"":[194],"his":[198],"sibling,":[199],"14":[204],"years,":[205],"chronic":[207],"severe":[209],"(dystrophic)":[211],"normal":[214],"staining":[215],"laminin-2":[217],"proteins":[220],"dystrophin-glycoprotein":[223],"complex.":[224],"A":[225],"possible":[226,301],"explanation":[227],"these":[229],"findings":[231],"that":[233],"magnetic":[234],"resonance":[235],"imaging":[236],"thighs":[239],"reveals":[240],"stereotyped":[241],"selective":[242],"involvement,":[244],"selectivity":[247],"more":[248],"pronounced":[249],"disease":[253],"course":[254],"followed":[255],"widespread":[257],"signal":[259],"abnormalities":[260],"late":[263],"stages":[264],"disease.":[267],"In":[268,305],"family,":[270],"linkage":[271],"1p":[275],"(RSMD1)":[280],"supported":[282],"maximum":[284,298,322],"LOD":[285,323],"scores":[286],"several":[288],"markers":[289],"1.81":[291],"theta":[293],"=":[294],"0,":[295],"representing":[296],"statistical":[299],"power":[300],"family.":[304],"combination":[306],"previous":[309],"report,":[310],"RSMD1":[317,339],"summated":[321],"score":[324],"6.29,":[326],"analysis":[328],"recombination":[330],"events":[331],"our":[333],"family":[334],"narrows":[335],"previously":[337],"reported":[338],"3":[342],"centiMorgans.":[343]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":9}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}
