{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T18:50:47Z","timestamp":1775069447992,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,8,30]],"date-time":"2024-08-30T00:00:00Z","timestamp":1724976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2024,9]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2\u2009years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene\u2013disease relationships (GDR) using the ClinGen gene\u2013disease clinical validity framework to evaluate 31 genes implicated in LGMD.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness. Four genes (\n CAPN3<\/jats:italic>\n ,\n COL6A1<\/jats:italic>\n ,\n COL6A2<\/jats:italic>\n , and\n COL6A3<\/jats:italic>\n ) were split into two separate disease entities, based on each displaying both dominant and recessive inheritance patterns, resulting in curation of 35 GDRs. Of these, 30 (86%) were classified as definitive, 4 (11%) as moderate, and 1 (3%) as limited. Two genes,\n POMGNT1<\/jats:italic>\n and\n DAG1<\/jats:italic>\n , though definitively related to myopathy, currently have insufficient evidence to support a relationship specifically with LGMD.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n The expert\u2010reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case\u2010level data that help clarify disputed or novel LGMD associations.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/acn3.52127","type":"journal-article","created":{"date-parts":[[2024,8,31]],"date-time":"2024-08-31T01:39:22Z","timestamp":1725068362000},"page":"2268-2276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy"],"prefix":"10.1002","volume":"11","author":[{"given":"Shruthi","family":"Mohan","sequence":"first","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon","family":"McNulty","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Courtney","family":"Thaxton","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwa","family":"Elnagheeb","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Owens","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May","family":"Flowers","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teagan","family":"Nunnery","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Autumn","family":"Self","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brooke","family":"Palus","sequence":"additional","affiliation":[{"name":"Department of Genetics University of North Carolina Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6870-4061","authenticated-orcid":false,"given":"Svetlana","family":"Gorokhova","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG, U 1251 Marseille France"},{"name":"Department of Medical Genetics Timone Children's Hospital, APHM Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"April","family":"Kennedy","sequence":"additional","affiliation":[{"name":"Division of Clinical Pharmacology and Toxicology The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6068-5505","authenticated-orcid":false,"given":"Zhiyv","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mridul","family":"Johari","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Centre for Medical Research University of Western Australia Nedlands Western Australia Australia"},{"name":"Folkh\u00e4lsan Research Center, Department of Medical and Clinical Genetics, Medicum University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alassane Baneye","family":"Maiga","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Sciences, Techniques and Technologies of Bamako Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Macalalad","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine in St. Louis St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2078-7280","authenticated-orcid":false,"given":"Amanda R.","family":"Clause","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine in St. Louis St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques S.","family":"Beckmann","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Lausanne Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucas","family":"Bronicki","sequence":"additional","affiliation":[{"name":"Department of clinical genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra T.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Kids Neuroscience Centre Children's Hospital at Westmead Westmead New South Wales Australia"},{"name":"School of Medical Sciences, Faculty of Medicine and Health The University of Sydney Westmead New South Wales Australia"},{"name":"Functional Neuromics Children's Medical Research Institute Westmead New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay S.","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts USA"},{"name":"Department of Neurology Brigham and Women's Hospital Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4270-7325","authenticated-orcid":false,"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[{"name":"Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology University of Minnesota Minneapolis Minnesota USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akanchha","family":"Kesari","sequence":"additional","affiliation":[{"name":"Illumina Inc San Diego California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine New Haven Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Levy","sequence":"additional","affiliation":[{"name":"Coalition to Cure Calpain 3 Westport Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Rufibach","sequence":"additional","affiliation":[{"name":"Jain Foundation Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2591-244X","authenticated-orcid":false,"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, Department of Medical and Clinical Genetics, Medicum University of Helsinki Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa J.","family":"Spencer","sequence":"additional","affiliation":[{"name":"Department of Neurology David Geffen School of Medicine at UCLA Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trusts Newcastle Upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-9144","authenticated-orcid":false,"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Newcastle University and Newcastle Hospitals NHS Foundation Trusts Newcastle Upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine in St. Louis St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,30]]},"reference":[{"issue":"1","key":"e_1_2_9_2_1","first-page":"1","article-title":"Genetic basis of limb\u2010girdle muscular dystrophies: the 2014 update","volume":"33","author":"Nigro V","year":"2014","journal-title":"Acta Myol"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00619"},{"issue":"4","key":"e_1_2_9_4_1","first-page":"207","article-title":"LGMD. Identification, description and classification","volume":"39","author":"Angelini C","year":"2020","journal-title":"Acta Myol"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10930-021-10006-9"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0666-z"},{"key":"e_1_2_9_10_1","unstructured":"Muscular dystrophies and myopathies gene curation expert panel.ClinGen | clinical genome resource [Internet].2024[cited 2024 Jun 3].https:\/\/clinicalgenome.org\/affiliation\/40151\/"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xgen.2022.100131"},{"key":"e_1_2_9_12_1","unstructured":"Gene\u2010Disease Validity Training Materials.ClinGen | clinical genome resource [Internet].2024[cited 2024 Jun 3].https:\/\/clinicalgenome.org\/curation\u2010activities\/gene\u2010disease\u2010validity\/training\u2010materials\/"},{"key":"e_1_2_9_13_1","unstructured":"ClinGen muscular dystrophies and myopathies gene curation expert panel curations [Internet].2024[cited 2024 Jun 3].https:\/\/search.clinicalgenome.org\/kb\/affiliate\/10061?page=1&size=25&search="},{"key":"e_1_2_9_14_1","unstructured":"ClinGen curated genes [Internet].2024[cited 2024 Jun 3].https:\/\/search.clinicalgenome.org\/kb\/genes\/curations?page=1&size=25&search="},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1128"},{"key":"e_1_2_9_16_1","unstructured":"Monarch\u2010initiative\/Mondo Github [Internet].2024[cited 2024 Jun 3].https:\/\/github.com\/monarch\u2010initiative\/mondo"},{"key":"e_1_2_9_17_1","volume-title":"GeneReviews\u00ae","author":"Foley AR","year":"1993"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww133"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.40"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2007.2"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13886"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1006939"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001162"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.017"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11070716"},{"issue":"1","key":"e_1_2_9_27_1","first-page":"60","article-title":"Report of a patient with limb\u2010girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy","volume":"18","author":"Fattahi Z","year":"2015","journal-title":"Arch Iran Med"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.6309"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00367"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01445-1"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu127"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.202100539RR"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00005-0"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-024-45933-5"},{"key":"e_1_2_9_35_1","article-title":"Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar\u2010like features","author":"Iruzubieta P","year":"2024","journal-title":"Brain"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.04.006"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.04.018"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.52127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T07:18:45Z","timestamp":1731568725000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.52127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,30]]},"references-count":36,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/acn3.52127"],"URL":"https:\/\/doi.org\/10.1002\/acn3.52127","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.05.03.592369","asserted-by":"object"}]},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,30]]},"assertion":[{"value":"2024-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}