{"id":"https://openalex.org/W7225296133","doi":"https://doi.org/10.1212/nxg.0000000000200454","title":"Clinical Heterogeneity in Myotonic Dystrophy Type 1","display_name":"Clinical Heterogeneity in Myotonic Dystrophy Type 1","publication_year":2026,"publication_date":"2026-11-05","ids":{"openalex":"https://openalex.org/W7225296133","doi":"https://doi.org/10.1212/nxg.0000000000200454","pmid":"https://pubmed.ncbi.nlm.nih.gov/42997914","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13743278"},"language":"en","primary_location":{"id":"doi:10.1212/nxg.0000000000200454","doi":"https://doi.org/10.1212/nxg.0000000000200454","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000200454","pdf_url":"https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200454","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200454","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5106011508","display_name":"Leandre A la Fontaine","orcid":"https://orcid.org/0009-0005-2004-1314","observed_orcids":["https://orcid.org/0009-0005-2004-1314"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"L.A. la Fontaine","raw_affiliation_strings":["Department of Neurology, Maastricht University Medical Center, the Netherlands;","Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;"],"raw_orcid":"https://orcid.org/0009-0005-2004-1314","affiliations":[{"raw_affiliation_string":"Department of Neurology, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]},{"raw_affiliation_string":"Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092256960","display_name":"Jip W T M de Kok","orcid":"https://orcid.org/0000-0002-5495-0285","observed_orcids":["https://orcid.org/0000-0002-5495-0285"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J.W.T.M. de Kok","raw_affiliation_strings":["Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands;","Department of Intensive Care Medicine, Maastricht University Medical Center, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0002-5495-0285","affiliations":[{"raw_affiliation_string":"Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]},{"raw_affiliation_string":"Department of Intensive Care Medicine, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160733891","display_name":"M. Imkamp","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"M. Imkamp","raw_affiliation_strings":["Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029419486","display_name":"Dani\u00ebl van As","orcid":"https://orcid.org/0000-0002-4702-1330","observed_orcids":["https://orcid.org/0000-0002-4702-1330"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"D. van As","raw_affiliation_strings":["Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands;","Department of Respiratory Medicine, Maastricht University Medical Center, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands;","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Department of Respiratory Medicine, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092995171","display_name":"Johanna E Bruijnes","orcid":"https://orcid.org/0000-0002-0002-1392","observed_orcids":["https://orcid.org/0000-0002-0002-1392"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J.E. Bruijnes","raw_affiliation_strings":["Department of Neurology, Maastricht University Medical Center, the Netherlands;","Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0002-0002-1392","affiliations":[{"raw_affiliation_string":"Department of Neurology, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]},{"raw_affiliation_string":"Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021033668","display_name":"Peter A.C. \u2019t Hoen","orcid":"https://orcid.org/0000-0003-4450-3112","observed_orcids":["https://orcid.org/0000-0003-4450-3112"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"P.A.C. 't Hoen","raw_affiliation_strings":["Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0003-4450-3112","affiliations":[{"raw_affiliation_string":"Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands;","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011278912","display_name":"Bettine A.H. Vosse","orcid":"https://orcid.org/0000-0002-9324-1289","observed_orcids":["https://orcid.org/0000-0002-9324-1289"]},"institutions":[{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]},{"id":"https://openalex.org/I4405263082","display_name":"Cura\u00e7ao Medical Center","ror":"https://ror.org/02acpdc95","country_code":"CW","type":"healthcare","lineage":["https://openalex.org/I4405263082"]}],"countries":["CW","NL"],"is_corresponding":false,"raw_author_name":"B.A.H. Vosse","raw_affiliation_strings":["Department of Neurology, Cura\u00e7ao Medical Center, Willemstad, Cura\u00e7ao; and","Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0002-9324-1289","affiliations":[{"raw_affiliation_string":"Department of Neurology, Cura\u00e7ao Medical Center, Willemstad, Cura\u00e7ao; and","institution_ids":["https://openalex.org/I4405263082"]},{"raw_affiliation_string":"Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160829725","display_name":"S.M.J. van Kuijk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"S.M.J. van Kuijk","raw_affiliation_strings":["Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center, the Netherlands;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102899529","display_name":"Ingemar S. J. Merkies","orcid":"https://orcid.org/0000-0002-8516-2361","observed_orcids":["https://orcid.org/0000-0002-8516-2361","https://orcid.org/0000-0002-5269-1734"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]},{"id":"https://openalex.org/I4405261313","display_name":"Donders Institute for Brain, Cognition and Behaviour","ror":"https://ror.org/053sba816","country_code":"NL","type":"facility","lineage":["https://openalex.org/I145872427","https://openalex.org/I4405261313"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"I.S.J. Merkies","raw_affiliation_strings":["Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands","Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0002-5269-1734","affiliations":[{"raw_affiliation_string":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands","institution_ids":["https://openalex.org/I2802934949","https://openalex.org/I4405261313"]},{"raw_affiliation_string":"Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013956389","display_name":"Catharina Gerritdina Faber","orcid":"https://orcid.org/0000-0002-2467-067X","observed_orcids":["https://orcid.org/0000-0002-2467-067X"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"C.G. Faber","raw_affiliation_strings":["Department of Neurology, Maastricht University Medical Center, the Netherlands;","Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0002-2467-067X","affiliations":[{"raw_affiliation_string":"Department of Neurology, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]},{"raw_affiliation_string":"Mental Health and Neuroscience Research Institute (MHeNS), Maastricht University, the Netherlands;","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042478911","display_name":"Karlien Mul","orcid":"https://orcid.org/0000-0001-8487-9478","observed_orcids":["https://orcid.org/0000-0001-8487-9478"]},"institutions":[{"id":"https://openalex.org/I2800191616","display_name":"Maastricht University Medical Centre","ror":"https://ror.org/02d9ce178","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800191616"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"K. Mul","raw_affiliation_strings":["Department of Respiratory Medicine, Maastricht University Medical Center, the Netherlands;"],"raw_orcid":"https://orcid.org/0000-0001-8487-9478","affiliations":[{"raw_affiliation_string":"Department of Respiratory Medicine, Maastricht University Medical Center, the Netherlands;","institution_ids":["https://openalex.org/I2800191616"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5106011508"],"corresponding_institution_ids":["https://openalex.org/I2800191616","https://openalex.org/I34352273"],"apc_list":{"value":3300,"currency":"USD","value_usd":3300},"apc_paid":{"value":3300,"currency":"USD","value_usd":3300},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.74353162,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"6","first_page":"e200454","last_page":"e200454"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0,"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/myotonic-dystrophy-type-1","display_name":"myotonic dystrophy type 1","score":1.0},{"id":"https://openalex.org/keywords/clinical-heterogeneity","display_name":"clinical heterogeneity","score":0.9789999723434448},{"id":"https://openalex.org/keywords/patient-subgroups","display_name":"patient subgroups","score":0.9309999942779541},{"id":"https://openalex.org/keywords/disease-burden","display_name":"disease burden","score":0.7789999842643738},{"id":"https://openalex.org/keywords/myotonia","display_name":"myotonia","score":0.8100000023841858},{"id":"https://openalex.org/keywords/gastrointestinal-symptoms","display_name":"gastrointestinal symptoms","score":0.6069999933242798},{"id":"https://openalex.org/keywords/fatigue","display_name":"fatigue","score":0.7639999985694885},{"id":"https://openalex.org/keywords/daytime-sleepiness","display_name":"daytime sleepiness","score":0.8410000205039978},{"id":"https://openalex.org/keywords/respiratory-function","display_name":"respiratory function","score":0.7590000033378601},{"id":"https://openalex.org/keywords/activities-of-daily-living","display_name":"activities of daily living","score":0.859000027179718},{"id":"https://openalex.org/keywords/patient-stratification","display_name":"patient stratification","score":0.7319999933242798},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.652999997138977}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7910000085830688},{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.7077000141143799},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5539000034332275},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.2508000135421753},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2493000030517578},{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.22679999470710754},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.22509999573230743},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.22429999709129333},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.20980000495910645},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.2053000032901764}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1212/nxg.0000000000200454","doi":"https://doi.org/10.1212/nxg.0000000000200454","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000200454","pdf_url":"https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200454","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},{"id":"pmid:42997914","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42997914","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":"Neurology. Genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1212/nxg.0000000000200454","doi":"https://doi.org/10.1212/nxg.0000000000200454","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000200454","pdf_url":"https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200454","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9922999739646912}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3831537855","display_name":null,"funder_award_id":"W.TR19-01)","funder_id":"https://openalex.org/F4320322485","funder_display_name":"Prinses Beatrix Spierfonds"},{"id":"https://openalex.org/G6864491029","display_name":null,"funder_award_id":"W.OR150-25","funder_id":"https://openalex.org/F4320322485","funder_display_name":"Prinses Beatrix Spierfonds"}],"funders":[{"id":"https://openalex.org/F4320322485","display_name":"Prinses Beatrix Spierfonds","ror":"https://ror.org/0011f2t53"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225296133.pdf","grobid_xml":"https://content.openalex.org/works/W7225296133.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1482976729","https://openalex.org/W1507495671","https://openalex.org/W1530831071","https://openalex.org/W1570381714","https://openalex.org/W1912086464","https://openalex.org/W1971635751","https://openalex.org/W1992746353","https://openalex.org/W2033403400","https://openalex.org/W2036752904","https://openalex.org/W2037407908","https://openalex.org/W2040571786","https://openalex.org/W2068816428","https://openalex.org/W2099449365","https://openalex.org/W2102986002","https://openalex.org/W2122245576","https://openalex.org/W2125078269","https://openalex.org/W2134638547","https://openalex.org/W2148688613","https://openalex.org/W2270577053","https://openalex.org/W2534120564","https://openalex.org/W2588245299","https://openalex.org/W2753249033","https://openalex.org/W2757050949","https://openalex.org/W2767866756","https://openalex.org/W2802850890","https://openalex.org/W2887826404","https://openalex.org/W2896774691","https://openalex.org/W2905021938","https://openalex.org/W2916531595","https://openalex.org/W2922412172","https://openalex.org/W2994597783","https://openalex.org/W3010791088","https://openalex.org/W3126047666","https://openalex.org/W4211120586","https://openalex.org/W4254919817","https://openalex.org/W4291150331","https://openalex.org/W4310951778","https://openalex.org/W4403989736","https://openalex.org/W4415390057","https://openalex.org/W4417248653","https://openalex.org/W7137802183"],"related_works":["https://openalex.org/W2056322188","https://openalex.org/W3167094238","https://openalex.org/W7112280613","https://openalex.org/W4249282595","https://openalex.org/W4403112293","https://openalex.org/W2014205908","https://openalex.org/W2083825428","https://openalex.org/W7214780873","https://openalex.org/W4252875367","https://openalex.org/W2135919840"],"abstract_inverted_index":{"Background":[0],"and":[1,20,43,51,75,130,148,161,164,189,228,248,259],"Objectives:":[2],"Myotonic":[3],"dystrophy":[4],"type":[5],"1":[6,152],"(DM1)":[7],"is":[8],"a":[9,14,122,131,244],"genetic":[10],"multisystem":[11],"disorder":[12],"with":[13,33,57,117,121,155,200,222],"wide":[15],"variability":[16],"in":[17,31,207,213,256],"symptom":[18,21],"severity":[19,246],"co-occurrence.":[22],"This":[23],"study":[24],"aimed":[25],"to":[26,47,66,77,167,192],"identify":[27],"homogeneous":[28],"patient":[29,254],"subgroups":[30,221],"DM1":[32,60,69,118,235],"distinct":[34,219],"disease":[35,79,94,133,240],"characteristics,":[36],"determine":[37],"key":[38],"features":[39],"underlying":[40],"these":[41],"subgroups,":[42],"evaluate":[44],"their":[45],"potential":[46],"inform":[48],"clinical":[49,220,257],"care":[50],"individualized":[52],"therapy.":[53],"Methods:":[54],"Adult":[55],"patients":[56,116,154,174,199,206],"genetically":[58],"confirmed":[59],"were":[61,119,142,226],"assessed":[62],"during":[63],"annual":[64],"visits":[65],"the":[67,92,106,208],"Dutch":[68,115],"expert":[70],"center":[71],"using":[72,102],"standardized":[73],"examinations":[74],"questionnaires":[76],"characterize":[78],"burden.":[80],"K-means":[81],"cluster":[82,215],"analysis":[83],"was":[84,100],"conducted":[85,101],"on":[86],"10":[87],"baseline":[88,103],"parameters":[89],"that":[90,234],"reflect":[91],"multisystemic":[93,224],"impact":[95],"of":[96,125,135,204],"DM1.":[97],"External":[98],"validation":[99],"data":[104,210],"from":[105],"END-DM1":[107],"natural":[108],"history":[109],"study.":[110],"Results:":[111],"Six":[112],"hundred":[113],"fifty-eight":[114],"included,":[120],"mean":[123,132],"age":[124],"45.33":[126],"\u00b1":[127,137],"14.30":[128],"years":[129],"duration":[134],"13.24":[136],"10.42":[138],"years.":[139],"Four":[140,218],"clusters":[141],"identified,":[143],"including":[144],"166,":[145],"169,":[146],"149,":[147],"174":[149],"patients.":[150],"Cluster":[151,171,183,196],"included":[153,173,198],"severe":[156],"myotonia,":[157],"gastrointestinal":[158],"complaints,":[159],"fatigue":[160],"daytime":[162],"sleepiness,":[163],"reduced":[165,186,190],"ability":[166,191],"perform":[168,193],"daily":[169,194],"activities.":[170,195],"2":[172],"severely":[175],"affected":[176],"across":[177],"all":[178],"domains":[179],"except":[180],"for":[181,251],"myotonia.":[182],"3":[184],"showed":[185],"respiratory":[187],"functioning":[188],"4":[197],"minimal":[201],"symptoms.":[202],"Clustering":[203],"581":[205],"external":[209],"set":[211],"resulted":[212],"similar":[214],"profiles.":[216],"Discussion:":[217],"characteristic":[223],"profiles":[225],"identified":[227],"independently":[229],"validated.":[230],"These":[231],"findings":[232],"demonstrate":[233],"heterogeneity":[236],"reflects":[237],"qualitatively":[238],"different":[239],"patterns":[241],"rather":[242],"than":[243],"simple":[245],"continuum":[247],"provide":[249],"foundation":[250],"more":[252],"targeted":[253],"stratification":[255],"trials":[258],"health":[260],"care.":[261]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-11-06T00:00:00"}
