{"id":"https://openalex.org/W2014186335","doi":"https://doi.org/10.1002/humu.20791","title":"Does proximal myotonic myopathy show anticipation?","display_name":"Does proximal myotonic myopathy show anticipation?","publication_year":2008,"publication_date":"2008-05-16","ids":{"openalex":"https://openalex.org/W2014186335","doi":"https://doi.org/10.1002/humu.20791","mag":"2014186335","pmid":"https://pubmed.ncbi.nlm.nih.gov/18484632"},"language":"en","primary_location":{"id":"doi:10.1002/humu.20791","doi":"https://doi.org/10.1002/humu.20791","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20791","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20791","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20791","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111458102","display_name":"B. Kruse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108711","display_name":"University Medical Center Hamburg-Eppendorf","ror":"https://ror.org/01zgy1s35","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I159176309","https://openalex.org/I4210108711"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernd Kruse","raw_affiliation_strings":["Department of Pediatrics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg","institution_ids":["https://openalex.org/I4210108711"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069142547","display_name":"Doris W\u00f6hrle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Doris W\u00f6hrle","raw_affiliation_strings":["Institute of Human Genetics, University of Ulm, Parkstr. 11, 89073 Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Ulm, Parkstr. 11, 89073 Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050655185","display_name":"Peter J. Steinbach","orcid":"https://orcid.org/0000-0002-6710-3472","observed_orcids":["https://orcid.org/0000-0002-6710-3472"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Steinbach","raw_affiliation_strings":["Institute of Human Genetics, University of Ulm, Parkstr. 11, 89073 Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University of Ulm, Parkstr. 11, 89073 Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5067293009","display_name":"Andreas Gal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108711","display_name":"University Medical Center Hamburg-Eppendorf","ror":"https://ror.org/01zgy1s35","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I159176309","https://openalex.org/I4210108711"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Andreas Gal","raw_affiliation_strings":["Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg","institution_ids":["https://openalex.org/I4210108711"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5067293009"],"corresponding_institution_ids":["https://openalex.org/I4210108711"],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":0.4331,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.57039196,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":"29","issue":"8","first_page":"E100","last_page":"E102"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9911999702453613,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9911999702453613,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0024999999441206455,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/proximal-myotonic-myopathy","display_name":"proximal myotonic myopathy","score":0.9580000042915344},{"id":"https://openalex.org/keywords/dm2","display_name":"DM2","score":0.8840000033378601},{"id":"https://openalex.org/keywords/cctg-repeat-expansion","display_name":"CCTG repeat expansion","score":0.7760000228881836},{"id":"https://openalex.org/keywords/znf9","display_name":"ZNF9","score":0.9369999766349792},{"id":"https://openalex.org/keywords/ctg-repeat-expansion","display_name":"CTG repeat expansion","score":0.6159999966621399},{"id":"https://openalex.org/keywords/dmpk","display_name":"DMPK","score":0.7020000219345093},{"id":"https://openalex.org/keywords/myotonia-congenita","display_name":"myotonia congenita","score":0.671999990940094},{"id":"https://openalex.org/keywords/childhood-onset","display_name":"childhood onset","score":0.36800000071525574},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7009999752044678}],"concepts":[{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.6755809187889099},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.646324872970581},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.6101844310760498},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5553137063980103},{"id":"https://openalex.org/C176777502","wikidata":"https://www.wikidata.org/wiki/Q4774623","display_name":"Anticipation (artificial intelligence)","level":2,"score":0.5173096656799316},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.4910726547241211},{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.42995333671569824},{"id":"https://openalex.org/C2911046722","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Muscle Hypotonia","level":3,"score":0.4135569632053375},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4023957848548889},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3367377519607544},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3259428143501282},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2655704617500305},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.20098108053207397},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000367","descriptor_name":"Age Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D019680","descriptor_name":"Trinucleotide Repeat Expansion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020132","descriptor_name":"Anticipation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020967","descriptor_name":"Myotonic Disorders","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D020967","descriptor_name":"Myotonic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/humu.20791","doi":"https://doi.org/10.1002/humu.20791","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20791","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20791","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:18484632","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18484632","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":"Human mutation","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1002/humu.20791","doi":"https://doi.org/10.1002/humu.20791","is_oa":true,"landing_page_url":"https://doi.org/10.1002/humu.20791","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.20791","source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"Human Mutation","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2014186335.pdf","grobid_xml":"https://content.openalex.org/works/W2014186335.grobid-xml"},"referenced_works_count":4,"referenced_works":["https://openalex.org/W1968471473","https://openalex.org/W2061909693","https://openalex.org/W2085885623","https://openalex.org/W2101942332"],"related_works":["https://openalex.org/W1983792677","https://openalex.org/W2750432593","https://openalex.org/W2181591167","https://openalex.org/W2064283990","https://openalex.org/W2014609594","https://openalex.org/W2159959155","https://openalex.org/W1984277035","https://openalex.org/W1600666991","https://openalex.org/W4302998671","https://openalex.org/W2054242281"],"abstract_inverted_index":{"Proximal":[0],"myotonic":[1,71],"myopathy":[2],"(DM2,":[3],"PROMM)":[4],"has":[5],"not":[6],"been":[7],"reported":[8],"in":[9,53,133],"patients":[10],"younger":[11],"than":[12],"18":[13,106],"years,":[14],"and":[15,20,95,136],"apparent":[16],"lack":[17],"of":[18,28,33,45,64,116,123,143],"congenital":[19],"childhood":[21],"forms":[22],"is":[23],"thought":[24],"to":[25],"be":[26],"one":[27],"the":[29,42,84,113,134,137,144],"distinctive":[30],"clinical":[31],"characteristics":[32],"this":[34],"trait.":[35],"We":[36],"now":[37],"describe":[38],"a":[39,46,49],"2-year-old":[40],"boy,":[41],"youngest":[43],"member":[44],"family":[47],"with":[48,62,90],"history":[50],"for":[51],"myotonia":[52],"2":[54],"generations.":[55],"The":[56],"patient's":[57],"35-year-old":[58],"mother":[59,135],"was":[60,149],"diagnosed":[61],"DM2":[63],"late":[65],"juvenile":[66],"onset.":[67],"She":[68],"developed":[69],"aggravating":[70],"symptoms":[72],"during":[73],"pregnancy.":[74],"Remarkably":[75],"few":[76],"intrauterine":[77],"child":[78,85],"movements":[79],"were":[80,110,130],"noticed.":[81],"After":[82],"birth":[83],"showed":[86],"general":[87],"muscular":[88],"hypotonia":[89],"delayed":[91],"statomotoric":[92],"development":[93],"(sitting":[94],"crawling":[96],"at":[97,105],"13":[98],"months,":[99],"first":[100],"lifting":[101],"into":[102],"standing":[103],"position":[104],"months).":[107],"Muscle":[108],"reflexes":[109],"normal.":[111],"In":[112],"CL3N58":[114],"region":[115],"ZNF9,":[117],"DM2-typical":[118],"unstable":[119],"expanded":[120],"CCTG":[121],"arrays":[122],"about":[124],"14.5":[125],"kb":[126],"(about":[127],"2,500":[128],"repeats)":[129],"detected":[131],"both":[132],"patient":[138],"by":[139],"Southern":[140],"blotting.":[141],"Expansion":[142],"DM1-specific":[145],"DMPK":[146],"CTG":[147],"repeat":[148],"excluded.":[150]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
