{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:42:34Z","timestamp":1787506954243,"version":"build-2736575974"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,6,11]],"date-time":"2025-06-11T00:00:00Z","timestamp":1749600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"GENOMIT","award":["I6478-B"],"award-info":[{"award-number":["I6478-B"]}]},{"DOI":"10.13039\/501100002428","name":"Austrian Science Fund FWF","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002428","id-type":"DOI","asserted-by":"crossref"}]},{"name":"EJP RD"},{"name":"German Federal Ministry of Education and Research"},{"name":"PreDYT","award":["01GM2302"],"award-info":[{"award-number":["01GM2302"]}]},{"name":"Schl\u00fcsselprojekt"},{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","award":["2022_EKSE.185"],"award-info":[{"award-number":["2022_EKSE.185"]}],"id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Federal Ministry of Education and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Free State of Bavaria"},{"DOI":"10.13039\/501100005713","name":"Technical University of Munich","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005713","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005235","name":"Institute for Advanced Study","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005235","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["DFG 458949627"],"award-info":[{"award-number":["DFG 458949627"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["ZE 1213\/2-1"],"award-info":[{"award-number":["ZE 1213\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The dystonin gene (DST) encodes three major isoforms, DST-a, DST-b and DST-e. Biallelic pathogenic variants in DST have previously been associated with two allelic monogenic disorders: hereditary sensory and autonomic neuropathy type VI (caused by a loss of DST-a) and epidermolysis bullosa simplex 3 (caused by a loss of DST-e).<\/jats:p>\n                  <jats:p>We investigated patients diagnosed with congenital myopathy using exome or genome sequencing. In 19 affected individuals from 14 unrelated families, we identified nine different variants in biallelic state located in exons 40-41, specific to DST-b. Affected individuals presented with severe neonatal myopathy characterized by arthrogryposis, hypotonia and dilated cardiomyopathy. Postnatal CPAP ventilation was required in nine patients, and seven died within the first three years of life. Survivors showed an improvement of symptoms, with the oldest three patients, now over 25 years old, exhibiting normal cognition and being ambulatory.<\/jats:p>\n                  <jats:p>RNA analyses demonstrated that transcripts encoding DST-b are predominantly expressed in skeletal muscle, heart tissue and cultured fibroblasts, but not in brain, matching the phenotypic spectrum. Patient-derived fibroblasts exhibited reduced DST mRNA expression. Proteomic analysis confirmed a reduction of DST protein levels due to an absence of the DST-b isoform. Muscle biopsies from four patients aged 1 month to 3 years revealed mild, non-specific myopathic changes. Ultrastructural analysis in three individuals showed mild and focal myofibrillar disruption and non-specific undulating nuclear membranes, with these changes observed in two cases each.<\/jats:p>\n                  <jats:p>Additionally, we identified two homozygous variants affecting both DST-a and DST-b isoforms in four patients from two unrelated families; all presented with severe arthrogryposis and died intrauterine or shortly after birth. Genotype-phenotype correlation in these patients and previously published cases with respective variants resulted in the definition of a DST-associated lethal congenital contracture syndrome.<\/jats:p>\n                  <jats:p>Our findings demonstrate that biallelic variants exclusively affecting DST-b cause an autosomal recessive congenital myopathy. Variants that also impact DST-a besides DST-b result in a more severe, lethal congenital contracture syndrome. The location of the variant within DST allows for phenotype prediction. We propose redefining DST as a disease-associated gene linked to four distinct allelic disease phenotypes.<\/jats:p>","DOI":"10.1093\/brain\/awaf227","type":"journal-article","created":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T07:38:51Z","timestamp":1749541131000},"page":"653-667","source":"Crossref","is-referenced-by-count":3,"title":["Deciphering\n                    <i>DST<\/i>\n                    -associated disorders: biallelic variants affecting DST-b cause a congenital myopathy"],"prefix":"10.1093","volume":"149","author":[{"given":"Maureen","family":"Jacob","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University , Essen 45147 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Harrer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinki","family":"Munot","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, Great Ormond Street Hospital , London WC1N 3JH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie T","family":"Achleitner","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) , Salzburg 5020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Badmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6920-8550","authenticated-orcid":false,"given":"Melanie","family":"Brugger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5183-780X","authenticated-orcid":false,"given":"Theresa","family":"Brunet","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gis\u00e8le","family":"Bonne","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie , Paris 75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Codina","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR) , Barcelona 08035 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ebner","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) , Salzburg 5020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peyman","family":"Eshraghi","sequence":"additional","affiliation":[{"name":"Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences , Mashhad 9177949025 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Eyring","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad Shah","family":"Farhat","sequence":"additional","affiliation":[{"name":"Neonatal Research Center, Mashhad University of Medical Sciences , Mashhad 9177949025 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 G","family":"Feichtinger","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) , Salzburg 5020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Marc\u00e9-Grau","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus , Barcelona 08035 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hahn","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Justus-Liebig-University Giessen , Giessen 35390 ,","place":["Germany"]},{"name":"Department of Child Neurology, Justus-Liebig-University Giessen , Giessen 35390 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Manel","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Physique et R\u00e9adaptation P\u00e9diatrique, L'Escale, H\u00f4pital Femme-M\u00e8re-Enfant, Hospices Civils de Lyon, Groupement Est , Bron 69500 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Mayerhanser","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 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University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]},{"name":"Helmholtz Association, Munich School for Data Science (MUDS) , Helmholtz Zentrum Munich, Munich 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2014-2028","authenticated-orcid":false,"given":"Anne","family":"Sch\u00e4nzer","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, Justus Liebig University Giessen , Giessen 35392 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University , Essen 45147 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , G\u00f6ttingen 37073 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahel","family":"Schuler","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Justus-Liebig-University Giessen , Giessen 35390 ,","place":["Germany"]},{"name":"Department of Child Neurology, Justus-Liebig-University Giessen , Giessen 35390 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Sewry","sequence":"additional","affiliation":[{"name":"Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance , Manchester M6 8HD ,","place":["UK"]},{"name":"Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital , Oswestry SY10 7AG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory , Kianpars, Ahvaz 61556-89467 ,","place":["Iran"]},{"name":"Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences , Ahvaz 6135715753 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke","family":"Slanz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitrii","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Sukenik-Halevy","sequence":"additional","affiliation":[{"name":"Genetic Institute, Meir Medical Center , Kfar Saba 4428164 ,","place":["Israel"]},{"name":"School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University , Tel Aviv 69978 ,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Homa","family":"Tajsharghi","sequence":"additional","affiliation":[{"name":"Division of Biomedicine, School of Health Sciences, University of Skovde , Skovde 541 28 ,","place":["Sweden"]}],"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 9177949025 ,","place":["Iran"]},{"name":"Neuroscience Research Center, Mashhad University of Medical Sciences , Mashhad 9177948564 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Trujillano","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR) , Barcelona 08035 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3280-6773","authenticated-orcid":false,"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, RWTH Aachen University Hospital , Aachen 52074 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Great Ormond Street Hospital , London WC1N 3JH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabah Ben","family":"Yaou","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, Inserm, Institut de Myologie, Centre de Recherche en Myologie , Paris 75013 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory , Kianpars, Ahvaz 61556-89467 ,","place":["Iran"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]},{"name":"Institute for Advanced Study, Technical University of Munich , Garching 85748 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Zsch\u00fcntzsch","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Medical Center , G\u00f6ttingen 37075 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen , G\u00f6ttingen 37073 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Gom\u00e9z-Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus , Barcelona 08035 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]},{"name":"Munich Cluster for Systems Neurology (SyNergy) , Munich 81377 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University , Essen 45147 ,","place":["Germany"]},{"name":"Department of Neurology, Heinrich Heine University D\u00fcsseldorf , D\u00fcsseldorf 40225 ,","place":["Germany"]},{"name":"Division of Neurology, Department of Medicine, Children\u2019s Hospital of Eastern Ontario Research Institute, the Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa , Ottawa , K1H 8L6","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4304-7848","authenticated-orcid":false,"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich-Heine-University , D\u00fcsseldorf 40225 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes A","family":"Mayr","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU) , Salzburg 5020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health, Technical University of Munich , Munich 81675 ,","place":["Germany"]},{"name":"Institute of Neurogenomics , Helmholtz Zentrum Munich, Neuherberg 85764 ,","place":["Germany"]},{"name":"Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich , Munich 80337 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,6,11]]},"reference":[{"key":"2026020710023140500_awaf227-B1","doi-asserted-by":"crossref","first-page":"D733","DOI":"10.1093\/nar\/gkv1189","article-title":"Reference sequence (RefSeq) database at NCBI: Current status, taxonomic expansion, and functional annotation","volume":"44","author":"O'Leary","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"2026020710023140500_awaf227-B2","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/S0959-437X(97)80154-2","article-title":"The plakin family: Versatile organizers of cytoskeletal architecture","volume":"7","author":"Ruhrberg","year":"1997","journal-title":"Curr Opin Genet Dev"},{"key":"2026020710023140500_awaf227-B3","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1111\/exd.12877","article-title":"One gene but different proteins and diseases: The complexity of dystonin and bullous 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