{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:51:29Z","timestamp":1790905889044,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T00:00:00Z","timestamp":1618185600000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AFM-Telethon, the Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM) and Sorbonne Universit\u00e9"},{"name":"National Institute of Neurological Disorders and Stroke, National Institutes of Health"},{"name":"The Andres Marcio Fondation"},{"name":"Cedars-Sinai Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular and the Fashion Industries Guild Endowed Fellowship for the Undiagnosed Diseases Program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9\u2009years, range: 0.0\u20132.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n\u2009=\u2009101, 66.9%), and subsequently lost this ability (n\u2009=\u200986; 85%). The age of ambulation acquisition (median: 1.2\u2009years, range: 0.8\u20134.0) and age of ambulation loss (median: 7\u2009years, range: 1.2\u201338.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype\u2013phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.<\/jats:p>","DOI":"10.1093\/braincomms\/fcab075","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T15:32:54Z","timestamp":1617982374000},"source":"Crossref","is-referenced-by-count":41,"title":["International retrospective natural history study of\n                    <i>LMNA<\/i>\n                    -related congenital muscular dystrophy"],"prefix":"10.1093","volume":"3","author":[{"given":"Rabah","family":"Ben Yaou","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France"},{"name":"APHP-Sorbonne Universit\u00e9, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Piti\u00e9-Salp\u00eatri\u00e8re Paris F-75013, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pomi","family":"Yun","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2324-1208","authenticated-orcid":false,"given":"Ivana","family":"Dabaj","sequence":"additional","affiliation":[{"name":"APHP-Universit\u00e9 Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Sant\u00e9 Enfant Adolescent (SEA), Raymond Poincar\u00e9 University Hospital, Garches France"},{"name":"INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Norato","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4138-2992","authenticated-orcid":false,"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[{"name":"INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Maggi","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de D\u00e9u, Institut de Recerca Sant Joan de D\u00e9u, CIBERER - ISC III, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy"},{"name":"Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Monges","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda, Hospital de Pediatr\u00eda J.P. Garrahan, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Bertoli","sequence":"additional","affiliation":[{"name":"Northern Genetics Service, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Komaki","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le","family":"Mayer","sequence":"additional","affiliation":[{"name":"APHP-Sorbonne Universit\u00e9, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS, ERN-Euro-NMD, Department of Neuropediatrics, H\u00f4pital Armand Trousseau, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[{"name":"Paediatric Neurology, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Castiglioni","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Cl\u00ednica Las Condes, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Institute of Integrated Laboratory Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative diseases, Department of Neurological and Psychiatric science,s Bambino Ges\u00f9 Children's Hospital, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Department and neuromuscular Center, H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Desguerre","sequence":"additional","affiliation":[{"name":"APHP-Centre - Universit\u00e9 de Paris, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS, ERN-Euro-NMD, Necker-Enfants Malades Hospital, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Erazo-Torricelli","sequence":"additional","affiliation":[{"name":"Neurolog\u00eda Pedi\u00e1trica, Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Cl\u00ednica Alemana de Santiago, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Gurgel-Giannetti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Ishiyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin S","family":"Kleinsteuber","sequence":"additional","affiliation":[{"name":"Neurolog\u00eda Pedi\u00e1trica Hospital Roberto del R\u00edo- Universidad de Chile - Cl\u00ednica Las Condes Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lagrue","sequence":"additional","affiliation":[{"name":"CHRU de Tours, Universit\u00e9 Fran\u00e7ois Rabelais de Tours, INSERM U1253, Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[{"name":"Department of neuropediatrics, CHU Strasbourg- Hautepierre, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique m\u00e9dicale, INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du Thorax, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Messina","sequence":"additional","affiliation":[{"name":"Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0925-7158","authenticated-orcid":false,"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique M","family":"Ryan","sequence":"additional","affiliation":[{"name":"Children's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Sabouraud","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie A, Neurologie 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Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy"},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[{"name":"Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Congenital Muscle Disease International Registry (CMDIR), Cure CMD, Lakewood, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy"},{"name":"National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1985-3671","authenticated-orcid":false,"given":"Tyler M","family":"Pierson","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"G\u00f3mez-Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Pediatric Neurology (ERN-RND - EURO-NMD), Vall d\u2019Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d\u2019Hebron, Vall d\u2019Hebron Barcelona Hospital Campus, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Reghan Foley","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[{"name":"APHP-Universit\u00e9 Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Sant\u00e9 Enfant Adolescent (SEA), Raymond Poincar\u00e9 University Hospital, Garches France"},{"name":"INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2516-3258","authenticated-orcid":false,"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France"},{"name":"APHP-Sorbonne Universit\u00e9, Neuromuscular Disorders Reference Center of Nord-Est-\u00cele de France, FILNEMUS France, ERN-Euro-NMD, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,4,11]]},"reference":[{"key":"2021070810513798800_fcab075-B1","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1080\/21678707.2016.1180975","article-title":"Clinical features and therapeutic strategies for managing the striated muscle 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