{"doi":"10.3389/fneur.2022.1011956","title":"Case report: Coexistence of myotonia congenita and Brugada syndrome in one family","abstract":"<jats:p>Myotonia congenita is a rare neuromuscular disorder caused by <jats:italic>CLCN1</jats:italic> mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.</jats:p>","journal":"Frontiers in Neurology","year":2022,"id":646401,"datarank":0.16479184330021646,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.0,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":2,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1683655,"name":"Anja Flamez","orcid":null,"position":1,"is_corresponding":false},{"id":902914,"name":"Thomy de Ravel","orcid":"0000-0002-3361-3781","position":2,"is_corresponding":false},{"id":1683656,"name":"Alexander Gheldof","orcid":null,"position":3,"is_corresponding":false},{"id":1683657,"name":"Luigi Pannone","orcid":null,"position":4,"is_corresponding":false},{"id":1683658,"name":"Carlo De Asmundis","orcid":null,"position":5,"is_corresponding":false},{"id":1683659,"name":"Gudrun Pappaert","orcid":null,"position":6,"is_corresponding":false},{"id":1683660,"name":"Véronique Bissay","orcid":null,"position":7,"is_corresponding":false},{"id":1683654,"name":"Ann Cordenier","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Case report: Coexistence of myotonia congenita and Brugada syndrome in one family","abstract":"<jats:p>Myotonia congenita is a rare neuromuscular disorder caused by <jats:italic>CLCN1</jats:italic> mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.</jats:p>","is_dataset_classified":null,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"36212636","pmcid":"PMC9537820","openalex_id":"https://openalex.org/W4296824884","authors":[],"funders":[{"funder_name":"Croatian Science Foundation","grant_id":"0000","title":"Coordination reactions of macrocyclic ligands in solution"}],"total_grants":1,"fwci":0.3076,"citation_percentile":0.58663569,"influential_citations":0,"citation_trend":[{"year":2025,"count":2}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.frontiersin.org/articles/10.3389/fneur.2022.1011956/pdf","host_type":"journal"},{"url":"https://www.frontiersin.org/articles/10.3389/fneur.2022.1011956/pdf","host_type":"publisher"},{"url":"https://www.frontiersin.org/articles/10.3389/fneur.2022.1011956/full","host_type":"publisher"},{"url":"https://doi.org/10.3389/fneur.2022.1011956","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/36212636","host_type":"repository"},{"url":"https://biblio.vub.ac.be/vubir/(bd5c3e1f-0631-49e7-9f74-3a8eeb1b8aa9).html","host_type":"repository"},{"url":"https://doaj.org/article/f09725c899704f50b6309cd3fccdbe39","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9537820","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9537820","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9537820?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.3389/fneur.2022.1011956","host_type":""}],"fields_of_study":["Cardiac electrophysiology and arrhythmias","Ion channel regulation and function","Genetic Neurodegenerative Diseases","0301 basic medicine","03 medical and health sciences","0302 clinical medicine"],"mesh_terms":[],"keywords":["Myotonia congenita","Brugada syndrome","Channelopathy","Myotonia","Medicine","Internal medicine","Cardiology","Cardiac Arrhythmia","Channelopathies","Clcn1","Brugada","Neurology","Neurology. 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