{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:14:30Z","timestamp":1792804470171,"version":"4.5.0"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","award":["R35 NS105078"],"award-info":[{"award-number":["R35 NS105078"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["H2020-MSCA-ITN-2017"],"award-info":[{"award-number":["H2020-MSCA-ITN-2017"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated with torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with AMC5-TOR1A have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted.<\/jats:p>\n               <jats:p>Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0\u201324 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad\/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with foetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71%, with higher mortality in males. Death occurred at a median age of 1.2 months (1 week\u20139 years), due to respiratory failure, cardiac arrest or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A\/B motif as well as biallelic truncating variants were linked to early death.<\/jats:p>\n               <jats:p>In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival.<\/jats:p>","DOI":"10.1093\/brain\/awad039","type":"journal-article","created":{"date-parts":[[2023,2,6]],"date-time":"2023-02-06T21:32:40Z","timestamp":1675719160000},"page":"3273-3288","source":"Crossref","is-referenced-by-count":16,"title":["The clinical and genetic spectrum of autosomal-recessive <i>TOR1A<\/i>-related disorders"],"prefix":"10.1093","volume":"146","author":[{"given":"Afshin","family":"Saffari","sequence":"first","affiliation":[{"name":"Department of Neurology, Boston Children's Hospital, Harvard Medical School , Boston, MA , USA"},{"name":"Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital , Heidelberg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0514-1729","authenticated-orcid":false,"given":"Tracy","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"School of Health Sciences, Division of Biomedicine, University of Skovde , Skovde , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Molecular and Clinical Sciences Institute, St. George's, University of London , Cranmer Terrace, London , UK"},{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1838-6688","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Zifarelli","sequence":"additional","affiliation":[{"name":"CENTOGENE GmbH , Am Strande 7, 18055 Rostock , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tipu","family":"Sultan","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehran Beiraghi","family":"Toosi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences , Mashhad , Iran"},{"name":"Neuroscience Research Center, Mashhad University of Medical Sciences , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Sedighzadeh","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz , Iran"},{"name":"KaryoGen , Isfahan , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria Mok","family":"Siu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University , London, ON , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Dar\u00edo","family":"Ortigoza-Escobar","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona , Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha M","family":"AlShamsi","sequence":"additional","affiliation":[{"name":"Genetic Division, Pediatrics Department, Tawam Hospital , Al Ain, UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahnaz","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of pediatrics and child Health, Aga Khan University , Karachi , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouriya Abbas","family":"Al-Sannaa","sequence":"additional","affiliation":[{"name":"Pediatric Services, John Hopkins Aramco Health Care , Dhahran , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walla","family":"Al-Hertani","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9156-5047","authenticated-orcid":false,"given":"Whalen","family":"Sandra","sequence":"additional","affiliation":[{"name":"APHP UF de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement et Syndromes Malformatifs, APHP, H\u00f4pital Armand Trousseau, ERN ITHACA, Sorbonne Universit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (MT \u2013 Neuromuscular and Neurometabolics, CL \u2013 Medical Genetics), McMaster Children's Hospital , Hamilton, Ontario , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahryar","family":"Alavi","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chumei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (MT \u2013 Neuromuscular and Neurometabolics, CL \u2013 Medical Genetics), McMaster Children's Hospital , Hamilton, Ontario , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra-Lynn","family":"Day-Salvatore","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick , NJ , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jes\u00fas","family":"Mart\u00ednez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Cruces University Hospital , Barakaldo, Vizcaya , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin M","family":"Levandoski","sequence":"additional","affiliation":[{"name":"The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick , NJ , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Bedoukian","sequence":"additional","affiliation":[{"name":"Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia , Philadelphia, PA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan-Khetarpal","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh , Pittsburgh, Pennsylvania , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela J","family":"Idleburg","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh , Pittsburgh, Pennsylvania , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minal Juliet","family":"Menezes","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia, the Children's Hospital at Westmead , Sydney, NSW , Australia"},{"name":"Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University , Sydney, NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aishwarya","family":"Siddharth","sequence":"additional","affiliation":[{"name":"Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics , Boston, MA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6127-6308","authenticated-orcid":false,"given":"Konrad","family":"Platzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center , Leipzig , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9216-5918","authenticated-orcid":false,"given":"Henry","family":"Oppermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Leipzig Medical Center , Leipzig , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Smitka","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden , Dresden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicity","family":"Collins","sequence":"additional","affiliation":[{"name":"Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University , Sydney, NSW , Australia"},{"name":"Department of Clinical Genetics, Children's Hospital at Westmead , Sydney, NSW , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale School of Medicine , New Haven, Connecticut , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohmmad","family":"Shahrooei","sequence":"additional","affiliation":[{"name":"Medical Laboratory of Dr. Shahrooei , Tehran , Iran"},{"name":"Department of Microbiology and Immunology, Clinical and Diagnostic Immunology , KU Leuven, Leuven , Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Ghavideldarestani","sequence":"additional","affiliation":[{"name":"Medical Laboratory of Dr. Shahrooei , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Herman","sequence":"additional","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine , Houston, TX , USA"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA"},{"name":"Texas Children's Hospital , Houston, TX , USA"},{"name":"Division of Pediatric Neuroscience, Boys Town National Research Hospital , Boys Town, NE , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0377-0807","authenticated-orcid":false,"given":"John","family":"Rendu","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences , Grenoble , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Faure","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences , Grenoble , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Baker","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis , Minnesota , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas","family":"Bhambhani","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis , Minnesota , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurel","family":"Calderwood","sequence":"additional","affiliation":[{"name":"Lucile Packard Children's Hospital Stanford , Palo Alto, CA , USA"},{"name":"Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine , Stanford, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Akhondian","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shima","family":"Imannezhad","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanieh Sadat","family":"Mirzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narges","family":"Hashemi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Doosti","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojtaba","family":"Safi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najmeh","family":"Ahangari","sequence":"additional","affiliation":[{"name":"Innovative medical research centre, Mashhad branch, Islamic Azad University , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paria Najarzadeh","family":"Torbati","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Next Generation Genetic Polyclinic , Mashhad , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Abedini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif Yilmaz","family":"Gulec","sequence":"additional","affiliation":[{"name":"Istanbul Medeniyet University Medical School, Department of Medical Genetics , Istanbul , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safieh","family":"Eshaghian","sequence":"additional","affiliation":[{"name":"Isfahan Fertility and Infertility Center , Isfahan , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Ghazavi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences , Isfahan , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T","family":"Pascher","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich , Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Vogel","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich , Munich , Germany"},{"name":"Deutsches Krebsforschungszentrum , Heidelberg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-8131","authenticated-orcid":false,"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich , Munich , Germany"},{"name":"Medizinisch Genetisches Zentrum , Munich, German"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8942-6731","authenticated-orcid":false,"given":"S\u00e9bastien","family":"Moutton","sequence":"additional","affiliation":[{"name":"Multidisciplinary Center for Prenatal Diagnosis, P\u00f4le M\u00e8re Enfant, Maison de Sant\u00e9 Protestante Bordeaux Bagatelle , Talence , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"\u00c9quipe G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement (GAD) , INSERM UMR1231, Dijon , France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic g\u00e9nomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital , Dijon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"Rieubland","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabina","family":"Gallati","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich , Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa , Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital , Ottawa , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Hasan","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Department of pediatrics, Zabol University of medical sciences , Zabol , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javeria Raza","family":"Alvi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine , Philadelphia, PA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth A","family":"Keena","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine , Philadelphia, PA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara M","family":"Skraban","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine , Philadelphia, PA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth I","family":"Berger","sequence":"additional","affiliation":[{"name":"Children's National Research Institute , Washington DC , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin H","family":"Andrew","sequence":"additional","affiliation":[{"name":"Children's National Research Institute , Washington DC , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham","family":"Rahimian","sequence":"additional","affiliation":[{"name":"Haghighat Medical Imaging center\u2013Tehran , Tehran , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle M","family":"Morrow","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg , MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg , MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Millan","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg , MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay B","family":"Henderson","sequence":"additional","affiliation":[{"name":"GeneDx, Gaithersburg , MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hormos Salimi","family":"Dafsari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne , Cologne , Germany"},{"name":"Max-Planck-Institute for Biology of Ageing and CECAD , Cologne , Germany"},{"name":"Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust , London , UK"},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Gomez-Ospina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Stanford University , Stanford, CA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"McRae","sequence":"additional","affiliation":[{"name":"Division of Genetics, Genomics, and Metabolism, Ann and Robert H. 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