{"id":"https://openalex.org/W7225753354","doi":"https://doi.org/10.21203/rs.3.rs-11265916/v1","title":"Childhood-onset Emery-Dreifuss muscular dystrophy type 2 due to an LMNA c.98A>G (p.Glu33Gly) variant: a longitudinal case report from childhood to adulthood","display_name":"Childhood-onset Emery-Dreifuss muscular dystrophy type 2 due to an LMNA c.98A>G (p.Glu33Gly) variant: a longitudinal case report from childhood to adulthood","publication_year":2026,"publication_date":"2026-11-10","ids":{"openalex":"https://openalex.org/W7225753354","doi":"https://doi.org/10.21203/rs.3.rs-11265916/v1"},"language":"en","primary_location":{"id":"doi:10.21203/rs.3.rs-11265916/v1","doi":"https://doi.org/10.21203/rs.3.rs-11265916/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11265916/v1","pdf_url":"https://www.researchsquare.com/article/rs-11265916/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.researchsquare.com/article/rs-11265916/latest.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5161367273","display_name":"Farah Mohamed Ramzy Hasan Mohamed","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117408","display_name":"Zayed Military Hospital","ror":"https://ror.org/02ehrn304","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I4210117408"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Farah Mohamed Ramzy Hasan Mohamed","raw_affiliation_strings":["Zayed Military Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Zayed Military Hospital","institution_ids":["https://openalex.org/I4210117408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5120447201","display_name":"Esraa Mohamed Abdullah Elameen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117408","display_name":"Zayed Military Hospital","ror":"https://ror.org/02ehrn304","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I4210117408"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Esraa Mohamed Abdullah Elameen","raw_affiliation_strings":["Zayed Military Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Zayed Military Hospital","institution_ids":["https://openalex.org/I4210117408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161390477","display_name":"Amani Ali Saif Alzaabi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117408","display_name":"Zayed Military Hospital","ror":"https://ror.org/02ehrn304","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I4210117408"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Amani Ali Saif Alzaabi","raw_affiliation_strings":["Zayed Military Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Zayed Military Hospital","institution_ids":["https://openalex.org/I4210117408"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5161374701","display_name":"Asmaa Ismail Elballat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117408","display_name":"Zayed Military Hospital","ror":"https://ror.org/02ehrn304","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I4210117408"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Asmaa Ismail Elballat","raw_affiliation_strings":["Zayed Military Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Zayed Military Hospital","institution_ids":["https://openalex.org/I4210117408"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5030974009","display_name":"Mahfoud Elbashari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210117408","display_name":"Zayed Military Hospital","ror":"https://ror.org/02ehrn304","country_code":"AE","type":"healthcare","lineage":["https://openalex.org/I4210117408"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"Mahfoud Elbashari","raw_affiliation_strings":["Zayed Military Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Zayed Military Hospital","institution_ids":["https://openalex.org/I4210117408"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210117408"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.45680001378059387,"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":0.45680001378059387,"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/T11841","display_name":"Nuclear Structure and Function","score":0.2904999852180481,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.10040000081062317,"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":[],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7702000141143799},{"id":"https://openalex.org/C2780654407","wikidata":"https://www.wikidata.org/wiki/Q4253573","display_name":"LMNA","level":4,"score":0.7638999819755554},{"id":"https://openalex.org/C127607297","wikidata":"https://www.wikidata.org/wiki/Q11602751","display_name":"Muscle contracture","level":2,"score":0.7121000289916992},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.527400016784668},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.527400016784668},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.4722999930381775},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.47040000557899475},{"id":"https://openalex.org/C2779438767","wikidata":"https://www.wikidata.org/wiki/Q112412","display_name":"Congenital myopathy","level":4,"score":0.4677000045776367},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4401000142097473},{"id":"https://openalex.org/C2779764123","wikidata":"https://www.wikidata.org/wiki/Q7972881","display_name":"Wasting","level":2,"score":0.4374000132083893},{"id":"https://openalex.org/C2779768179","wikidata":"https://www.wikidata.org/wiki/Q1321884","display_name":"Congenital muscular dystrophy","level":3,"score":0.42590001225471497},{"id":"https://openalex.org/C2776418732","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Muscle weakness","level":2,"score":0.4212999939918518},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.41999998688697815},{"id":"https://openalex.org/C2781184374","wikidata":"https://www.wikidata.org/wiki/Q42586","display_name":"Elbow","level":2,"score":0.4041000008583069},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3702999949455261},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.36079999804496765},{"id":"https://openalex.org/C36880943","wikidata":"https://www.wikidata.org/wiki/Q409458","display_name":"Creatine kinase","level":2,"score":0.35339999198913574},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.3449000120162964},{"id":"https://openalex.org/C2777515770","wikidata":"https://www.wikidata.org/wiki/Q507369","display_name":"Electromyography","level":2,"score":0.3434000015258789},{"id":"https://openalex.org/C2909745897","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Proximal muscle weakness","level":4,"score":0.32440000772476196},{"id":"https://openalex.org/C2776356578","wikidata":"https://www.wikidata.org/wiki/Q2246789","display_name":"Neuromuscular disease","level":3,"score":0.3125},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.3043000102043152},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.2806999981403351},{"id":"https://openalex.org/C2776728740","wikidata":"https://www.wikidata.org/wiki/Q2279175","display_name":"Progressive muscular atrophy","level":4,"score":0.2800000011920929},{"id":"https://openalex.org/C2779379848","wikidata":"https://www.wikidata.org/wiki/Q917069","display_name":"Rhabdomyolysis","level":2,"score":0.2786000072956085},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.27639999985694885},{"id":"https://openalex.org/C2909765735","wikidata":"https://www.wikidata.org/wiki/Q4116663","display_name":"Muscle disorder","level":2,"score":0.26429998874664307},{"id":"https://openalex.org/C2781111119","wikidata":"https://www.wikidata.org/wiki/Q708165","display_name":"Arthrogryposis","level":2,"score":0.25690001249313354},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.25619998574256897}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.21203/rs.3.rs-11265916/v1","doi":"https://doi.org/10.21203/rs.3.rs-11265916/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11265916/v1","pdf_url":"https://www.researchsquare.com/article/rs-11265916/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.21203/rs.3.rs-11265916/v1","doi":"https://doi.org/10.21203/rs.3.rs-11265916/v1","is_oa":true,"landing_page_url":"https://doi.org/10.21203/rs.3.rs-11265916/v1","pdf_url":"https://www.researchsquare.com/article/rs-11265916/latest.pdf","source":{"id":"https://openalex.org/S4306525896","display_name":"Research Square","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Research Square","raw_type":"posted-content"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7225753354.pdf","grobid_xml":"https://content.openalex.org/works/W7225753354.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1487741670","https://openalex.org/W1591884598","https://openalex.org/W2042346825","https://openalex.org/W2043283694","https://openalex.org/W2145527819","https://openalex.org/W2797207722","https://openalex.org/W2798184688","https://openalex.org/W2948716817","https://openalex.org/W2970833870","https://openalex.org/W2994835401","https://openalex.org/W4293217392"],"related_works":[],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Emery-Dreifuss":[2],"muscular":[3,129],"dystrophy":[4],"type":[5],"2":[6],"(EDMD2)":[7],"is":[8],"an":[9],"autosomal":[10],"dominant":[11],"laminopathy":[12],"caused":[13],"by":[14,23,141],"pathogenic":[15,191],"Lamin":[16],"A/C":[17],"(LMNA)":[18],"gene":[19],"variants":[20],"and":[21,31,66,78,87,99,122,137,140,159,164,178,219,224,252,264],"characterized":[22],"early":[24,208],"joint":[25],"contractures,":[26],"slowly":[27],"progressive":[28,75],"skeletal-muscle":[29],"weakness,":[30,89],"potentially":[32],"life-threatening":[33],"cardiac":[34,240,254],"disease.":[35],"Detailed":[36],"longitudinal":[37],"descriptions":[38],"extending":[39],"from":[40,234],"childhood":[41,235],"into":[42,236],"adulthood":[43],"are":[44],"uncommon,":[45],"particularly":[46],"for":[47,74,149],"individual":[48],"LMNA":[49,192],"variants.":[50],"Case":[51],"presentation":[52],"We":[53],"describe":[54],"a":[55,147,189,211,220],"boy":[56],"whose":[57],"limb":[58],"weakness":[59,77,136],"began":[60],"at":[61,70,242],"6\u20137":[62],"years":[63,73],"of":[64,207,229,267],"age":[65,71,142,153],"who":[67],"was":[68,108,120],"referred":[69],"10":[72],"proximal":[76,85],"bilateral":[79,102],"elbow":[80,103,157],"flexion":[81],"contractures.":[82,104],"Examination":[83],"showed":[84,125,173],"upper-":[86],"lower-limb":[88],"depressed":[90],"or":[91],"absent":[92],"deep":[93],"tendon":[94],"reflexes,":[95],"mild":[96],"pes":[97],"cavus,":[98],"approximately":[100],"20-degree":[101],"Serum":[105],"creatine":[106,216],"kinase":[107,217],"mildly":[109],"elevated":[110],"(approximately":[111],"430":[112],"IU/L),":[113],"nerve":[114],"conduction":[115],"studies":[116],"were":[117,168],"normal,":[118],"electromyography":[119],"myopathic,":[121],"muscle":[123,160],"biopsy":[124],"changes":[126],"consistent":[127],"with":[128,213],"dystrophy.":[130],"Over":[131],"the":[132,204,227],"next":[133],"four":[134],"years,":[135,144,155],"contractures":[138,158,209],"progressed,":[139],"14":[143],"he":[145],"required":[146],"wheelchair":[148],"community":[150],"mobility.":[151],"At":[152],"23":[154],"fixed":[156],"wasting":[161],"persisted.":[162],"Echocardiography":[163],"exercise":[165],"stress":[166],"testing":[167,187],"unremarkable;":[169],"24-hour":[170],"Holter":[171],"monitoring":[172],"frequent":[174],"premature":[175,180],"atrial":[176],"contractions":[177,182],"rare":[179],"ventricular":[181],"without":[183],"sustained":[184],"arrhythmia.":[185],"Molecular":[186,258],"identified":[188],"heterozygous":[190],"variant,":[193],"c.98A":[194],">":[195],"G":[196],"(p.Glu33Gly),":[197],"confirming":[198],"EDMD2.":[199],"Conclusions":[200],"This":[201],"case":[202],"illustrates":[203],"diagnostic":[205],"value":[206],"in":[210],"child":[212],"relatively":[214],"modest":[215],"elevation":[218],"myopathic":[221],"electrophysiologic":[222],"pattern,":[223],"it":[225],"documents":[226],"evolution":[228],"genetically":[230],"confirmed":[231],"LMNA-related":[232],"EDMD":[233],"adulthood.":[237],"The":[238],"preserved":[239],"structure":[241],"adult":[243],"assessment":[244],"does":[245],"not":[246],"eliminate":[247],"future":[248],"risk;":[249],"lifelong":[250],"rhythm":[251],"structural":[253],"surveillance":[255],"remain":[256],"essential.":[257],"confirmation":[259],"also":[260],"enables":[261],"appropriate":[262],"counselling":[263],"targeted":[265],"evaluation":[266],"at-risk":[268],"relatives.":[269]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2026-11-11T00:00:00"}
