{"id":"https://openalex.org/W2466718643","doi":null,"title":"Profiles of neuromuscular diseases. Myotonic dystrophy.","display_name":"Profiles of neuromuscular diseases. Myotonic dystrophy.","publication_year":1995,"publication_date":"1995-09-01","ids":{"openalex":"https://openalex.org/W2466718643","mag":"2466718643","pmid":"https://pubmed.ncbi.nlm.nih.gov/7576418"},"language":"en","primary_location":{"id":"pmid:7576418","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7576418","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 physical medicine & rehabilitation","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5000633400","display_name":"E R Johnson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I84218800","display_name":"University of California, Davis","ror":"https://ror.org/05rrcem69","country_code":"US","type":"education","lineage":["https://openalex.org/I84218800"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E R Johnson","raw_affiliation_strings":["University of California, Davis 95616, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of California, Davis 95616, USA","institution_ids":["https://openalex.org/I84218800"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109157678","display_name":"Richard Ted Abresch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R T Abresch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108098417","display_name":"Carter Gt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G T Carter","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109092240","display_name":"David D. Kilmer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D D Kilmer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109802759","display_name":"Fowler Wm","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W M Fowler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017827206","display_name":"Barbara J. Sigford","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B J Sigford","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5021652249","display_name":"Richard L. Wanlass","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R L Wanlass","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.8354,"has_fulltext":false,"cited_by_count":95,"citation_normalized_percentile":{"value":0.6615956,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"74","issue":"5 Suppl","first_page":"S104","last_page":"16"},"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/T10441","display_name":"Muscle Physiology and Disorders","score":9.999999747378752e-05,"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":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/myotonic-dystrophy","display_name":"myotonic dystrophy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/congenital-myotonic-dystrophy","display_name":"congenital myotonic dystrophy","score":0.9850000143051147},{"id":"https://openalex.org/keywords/muscle-weakness","display_name":"muscle weakness","score":0.8799999952316284},{"id":"https://openalex.org/keywords/muscle-strength","display_name":"muscle strength","score":0.6759999990463257},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":0.9020000100135803},{"id":"https://openalex.org/keywords/contractures","display_name":"contractures","score":0.8930000066757202},{"id":"https://openalex.org/keywords/restrictive-lung-disease","display_name":"restrictive lung disease","score":0.9819999933242798},{"id":"https://openalex.org/keywords/cardiac-conduction-disorders","display_name":"cardiac conduction disorders","score":0.7799999713897705},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.6840000152587891},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.7990000247955322},{"id":"https://openalex.org/keywords/functional-disability","display_name":"functional disability","score":0.7760000228881836},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.7239999771118164}],"concepts":[{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.8875197172164917},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8358640074729919},{"id":"https://openalex.org/C127607297","wikidata":"https://www.wikidata.org/wiki/Q11602751","display_name":"Muscle contracture","level":2,"score":0.6247405409812927},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.6148552298545837},{"id":"https://openalex.org/C2776418732","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Muscle weakness","level":2,"score":0.6125686168670654},{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.5775858759880066},{"id":"https://openalex.org/C2779982284","wikidata":"https://www.wikidata.org/wiki/Q1182746","display_name":"Deformity","level":2,"score":0.45823079347610474},{"id":"https://openalex.org/C2776356578","wikidata":"https://www.wikidata.org/wiki/Q2246789","display_name":"Neuromuscular disease","level":3,"score":0.42822104692459106},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4261084198951721},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.38354751467704773},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.36401355266571045},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.3604022264480591},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3333769142627716},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.32303154468536377},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.26553142070770264},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2213587462902069}],"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":"D000886","descriptor_name":"Anthropometry","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":"D004562","descriptor_name":"Electrocardiography","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":"D007361","descriptor_name":"Intelligence Tests","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":"D009132","descriptor_name":"Muscles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009223","descriptor_name":"Myotonic Dystrophy","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D009223","descriptor_name":"Myotonic Dystrophy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D009223","descriptor_name":"Myotonic Dystrophy","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D010552","descriptor_name":"Personality Assessment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011597","descriptor_name":"Psychomotor Performance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012129","descriptor_name":"Respiratory Function Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:7576418","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7576418","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 physical medicine & rehabilitation","raw_type":"Journal Article"},{"id":"mag:2466718643","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7576418","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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4249094590","https://openalex.org/W2152834363","https://openalex.org/W4389467380","https://openalex.org/W4389467349","https://openalex.org/W3131595741","https://openalex.org/W2422560353","https://openalex.org/W2039320719","https://openalex.org/W2324471819","https://openalex.org/W6905131254","https://openalex.org/W3132241460"],"abstract_inverted_index":{"Ninety-two":[0],"individuals":[1,236],"with":[2,75,116,213,237],"myotonic":[3],"dystrophy":[4],"(MD)":[5],"were":[6,94,104,148],"evaluated":[7],"prospectively":[8],"over":[9],"a":[10,100,125,161,173,189],"10-yr":[11],"period":[12],"and":[13,21,31,46,64,81,87,91,156,170,182,200],"separated":[14],"into":[15],"two":[16,194],"types,":[17,35,74],"75":[18],"noncongenital":[19],"(NC-MD)":[20],"17":[22],"congenital":[23],"(C-MD)":[24],"MD.":[25],"Muscle":[26],"weakness":[27,53],"was":[28,54,69,124,139,160,188,223],"relatively":[29,130],"mild":[30],"similar":[32,101],"in":[33,50,56,66,72,113,134,141,152,198],"both":[34,73],"4.0":[36],"+/-":[37,48],"0.7":[38,49],"manual":[39],"muscle":[40,114],"test":[41],"(MMT)":[42],"scores":[43,118],"for":[44,218,235],"NC-MD":[45,155,219],"3.8":[47],"C-MD.":[51,67,153,238],"However,":[52],"progressive":[55],"the":[57,85,146,193],"former,":[58],"-0.36":[59],"MMT":[60,117],"units":[61],"per":[62],"decade,":[63],"nonprogressive":[65,132],"Weakness":[68],"usually":[70,144,216],"generalized":[71],"no":[76],"significant":[77,177,232],"differences":[78,93],"between":[79,192],"upper":[80],"lower":[82],"extremities":[83],"or":[84,121],"proximal":[86],"distal":[88],"muscles.":[89],"Flexor":[90],"extensor":[92],"variable.":[95],"Quantitative":[96],"strength":[97,109],"measurements":[98],"showed":[99,208,231],"pattern":[102],"but":[103,172,227],"more":[105,150],"sensitive":[106],"showing":[107],"marked":[108,190],"losses":[110],"of":[111,119,129,164,176,196,205],"40-50%":[112],"groups":[115],"four":[120],"more.":[122],"There":[123,187],"high":[126,174],"frequency":[127,163],"(47%)":[128],"mild,":[131,217],"scoliosis":[133],"C-MD,":[135,157],"whereas":[136],"spine":[137],"deformity":[138],"unusual":[140],"NC-MD.":[142],"Contractures,":[143],"at":[145],"ankles,":[147],"also":[149],"common":[151],"In":[154],"respectively,":[158],"there":[159],"low":[162],"severe":[165],"restrictive":[166],"lung":[167],"disease":[168],"(14":[169],"20%)":[171],"percentage":[175],"electrocardiographic":[178],"(ECG)":[179],"abnormalities":[180],"(75":[181],"81%),":[183],"including":[184],"conduction":[185],"defects.":[186],"difference":[191],"types":[195],"MD":[197],"intellectual":[199],"cognitive":[201],"function.":[202],"Seventy-five":[203],"percent":[204],"C-MD":[206],"subjects":[207],"impairment,":[209,215],"frequently":[210],"severe,":[211],"compared":[212],"35%":[214],"individuals.":[220],"Functional":[221],"evaluation":[222],"not":[224],"markedly":[225],"affected,":[226],"timed":[228],"motor":[229],"performance":[230],"disability":[233],"especially":[234]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":11}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-07-22T00:00:00"}
