{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T05:08:28Z","timestamp":1778821708101,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T00:00:00Z","timestamp":1778716800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000850","name":"National Heart and Lung Institute","doi-asserted-by":"publisher","award":["R01 HG009141"],"award-info":[{"award-number":["R01 HG009141"]}],"id":[{"id":"10.13039\/501100000850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2021\u201002109"],"award-info":[{"award-number":["2021\u201002109"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P50NS053672"],"award-info":[{"award-number":["P50NS053672"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SRPK3\/TTN<\/jats:italic>\n                      \u2010digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of\n                      <jats:italic>SRPK3\/TTN<\/jats:italic>\n                      \u2010digenic myopathy in one previously reported and seven newly identified pediatric patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Next generation sequencing and deep clinical phenotyping provide detailed genetic, clinical, imaging, and histopathological characterization of\n                      <jats:italic>SRPK3\/TTN\u2010<\/jats:italic>\n                      digenic myopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      From the cohort of eight male patients (5\u201319\u2009years at last evaluation), five presented prenatally with reduced fetal movements. At the time of birth, five had hypotonia, two had contractures, and two had respiratory distress. All patients demonstrated motor delay and muscle weakness within the first 15\u2009months of life. Independent ambulation was achieved in six patients (ages 1.5\u20134\u2009years); three could run. Variable respiratory compromise was documented as early as 5\u2009years of age, with one patient requiring non\u2010invasive nocturnal ventilation support. Cardiac evaluation was normal in all except one patient who had left ventricular non\u2010compaction cardiomyopathy. Muscle MRI demonstrated mild, slowly progressive fibroadipose replacement of muscle with striking early selective involvement of the semitendinosus muscle. Histopathologic and ultrastructural features mimicked\n                      <jats:italic>TTN<\/jats:italic>\n                      \u2010related myopathy (titinopathy), showing abnormal fiber size variation, increased internally placed nuclei, type 1 fiber predominance, and cores\/minicores.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This work highlights the early clinical manifestations of\n                      <jats:italic>SRPK3\/TTN<\/jats:italic>\n                      \u2010digenic myopathy and demonstrates early muscle imaging patterns and histopathological features that are indistinct from those observed in monogenic biallelic titinopathy cases. These features could help with the potentially challenging interpretation of digenic\n                      <jats:italic>SRPK3<\/jats:italic>\n                      and\n                      <jats:italic>TTN<\/jats:italic>\n                      variants to allow for a confident clinical diagnosis of this novel congenital myopathy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/acn3.70401","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:21:04Z","timestamp":1778818864000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Early Clinical, Imaging, and Pathological Characteristics of\n                    <i>\n                      <scp>SRPK3<\/scp>\n                      \/\n                      <scp>TTN<\/scp>\n                    <\/i>\n                    \u2010Digenic Myopathy"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1015-1529","authenticated-orcid":false,"given":"Rotem","family":"Orbach","sequence":"first","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6399-1444","authenticated-orcid":false,"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 Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7141-4185","authenticated-orcid":false,"given":"Carola","family":"Hedberg\u2010Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine, University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Baranello","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimah","family":"Saade","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Precilla","family":"D'Souza","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruchee","family":"Patel","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8483-2028","authenticated-orcid":false,"given":"Eva","family":"Michael","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Institute of Clinical Sciences, University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2168-1119","authenticated-orcid":false,"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Bharucha\u2010Goebel","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"},{"name":"Nationwide Children's Hospital Center for Gene Therapy  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Jin","family":"Haugland","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meghan","family":"McAnally","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Omer Abdul","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nemours Children's Health  Orlando Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Chao","sequence":"additional","affiliation":[{"name":"Program in Medical and Population Genetics Center for Mendelian Genomics, Broad Institute of MIT and Harvard  Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen F.","family":"Macnamara","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8818-0568","authenticated-orcid":false,"given":"Alan H.","family":"Beggs","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9831-8926","authenticated-orcid":false,"given":"Juliane","family":"Mueller","sequence":"additional","affiliation":[{"name":"The Dubowitz Neuromuscular Centre University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard S.","family":"Finkel","sequence":"additional","affiliation":[{"name":"Center for Experimental Neurotherapeutics St. Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Tifft","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre  London UK"},{"name":"The Dubowitz Neuromuscular Centre University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine, University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5930-2324","authenticated-orcid":false,"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 Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"issue":"3","key":"e_1_2_10_2_1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/s41588-023-01651-0","article-title":"Digenic Inheritance Involving a Muscle\u2010Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy","volume":"56","author":"Topf A.","year":"2024","journal-title":"Nature Genetics"},{"issue":"9","key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/nrm1198","article-title":"Titin: Properties and Family Relationships","volume":"4","author":"Tskhovrebova L.","year":"2003","journal-title":"Nature Reviews. Molecular Cell Biology"},{"issue":"5","key":"e_1_2_10_4_1","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/jcsm.12319","article-title":"Titin\u2010Based Mechanosensing Modulates Muscle Hypertrophy","volume":"9","author":"Pijl R.","year":"2018","journal-title":"Journal of Cachexia, Sarcopenia and Muscle"},{"issue":"7","key":"e_1_2_10_5_1","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of Titin Causing Dilated Cardiomyopathy","volume":"366","author":"Herman D. S.","year":"2012","journal-title":"New England Journal of Medicine"},{"issue":"4","key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ana.27087","article-title":"Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum","volume":"97","author":"Coppens S.","year":"2025","journal-title":"Annals of Neurology"},{"issue":"3","key":"e_1_2_10_7_1","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/342380","article-title":"Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal\u2010Muscle Protein Titin","volume":"71","author":"Hackman P.","year":"2002","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1093\/brain\/aws102","article-title":"Titin Mutation Segregates With Hereditary Myopathy With Early Respiratory Failure","volume":"135","author":"Pfeffer G.","year":"2012","journal-title":"Brain"},{"issue":"17","key":"e_1_2_10_9_1","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1101\/gad.1338705","article-title":"Centronuclear Myopathy in Mice Lacking a Novel Muscle\u2010Specific Protein Kinase Transcriptionally Regulated by MEF2","volume":"19","author":"Nakagawa O.","year":"2005","journal-title":"Genes and Development"},{"issue":"5","key":"e_1_2_10_10_1","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1002\/ana.27037","article-title":"SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X\u2010Linked Intellectual Disability","volume":"96","author":"Roychaudhury A.","year":"2024","journal-title":"Annals of Neurology"},{"issue":"5","key":"e_1_2_10_11_1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S.","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"7809","key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The Mutational Constraint Spectrum Quantified From Variation in 141,456 Humans","volume":"581","author":"Karczewski K. J.","year":"2020","journal-title":"Nature"},{"issue":"2","key":"e_1_2_10_13_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.jchf.2022.11.025","article-title":"Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians","volume":"11","author":"Kontorovich A. R.","year":"2023","journal-title":"JACC Heart Fail"},{"issue":"3","key":"e_1_2_10_14_1","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1136\/jmedgenet-2014-102822","article-title":"Evidence of Digenic Inheritance in Alport Syndrome","volume":"52","author":"Mencarelli M. A.","year":"2015","journal-title":"Journal of Medical Genetics"},{"issue":"10","key":"e_1_2_10_15_1","first-page":"1972","article-title":"Dominant and Digenic Mutations in the Peripherin\/RDS and ROM1 Genes in Retinitis Pigmentosa","volume":"38","author":"Dryja T. P.","year":"1997","journal-title":"Investigative Ophthalmology and Visual Science"},{"issue":"5165","key":"e_1_2_10_16_1","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1126\/science.8202715","article-title":"Digenic Retinitis Pigmentosa due to Mutations at the Unlinked Peripherin\/RDS and ROM1 Loci","volume":"264","author":"Kajiwara K.","year":"1994","journal-title":"Science"},{"issue":"12","key":"e_1_2_10_17_1","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic Inheritance of an SMCHD1 Mutation and an FSHD\u2010Permissive D4Z4 Allele Causes Facioscapulohumeral Muscular Dystrophy Type 2","volume":"44","author":"Lemmers R. J.","year":"2012","journal-title":"Nature Genetics"},{"issue":"3","key":"e_1_2_10_18_1","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1172\/JCI97103","article-title":"TIA1 Variant Drives Myodegeneration in Multisystem Proteinopathy With SQSTM1 Mutations","volume":"128","author":"Lee Y.","year":"2018","journal-title":"Journal of Clinical Investigation"},{"issue":"6","key":"e_1_2_10_19_1","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1002\/ana.25241","article-title":"Congenital Titinopathy: Comprehensive Characterization and Pathogenic Insights","volume":"83","author":"Oates E. C.","year":"2018","journal-title":"Annals of Neurology"},{"issue":"12","key":"e_1_2_10_20_1","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1038\/s41436-020-0914-2","article-title":"Genotype\u2010Phenotype Correlations in Recessive Titinopathies","volume":"22","author":"Savarese M.","year":"2020","journal-title":"Genetics in Medicine"},{"issue":"6","key":"e_1_2_10_21_1","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1177\/22143602241283391","article-title":"Taking on the Titin: Muscle Imaging as a Diagnostic Marker of Biallelic TTN\u2010Related Myopathy","volume":"11","author":"Hayes L. H.","year":"2024","journal-title":"Journal of Neuromuscular Diseases"},{"issue":"10","key":"e_1_2_10_22_1","doi-asserted-by":"crossref","DOI":"10.1111\/ene.70348","article-title":"Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies","volume":"32","author":"Gomez\u2010Andres D.","year":"2025","journal-title":"European Journal of Neurology"},{"issue":"5","key":"e_1_2_10_23_1","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/cge.14673","article-title":"Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings","volume":"107","author":"Sharkova I.","year":"2025","journal-title":"Clinical Genetics"},{"issue":"10","key":"e_1_2_10_24_1","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1212\/01.wnl.0000324927.28817.9b","article-title":"Distinct Muscle Imaging Patterns in Myofibrillar Myopathies","volume":"71","author":"Fischer D.","year":"2008","journal-title":"Neurology"},{"issue":"6","key":"e_1_2_10_25_1","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/mus.27419","article-title":"Muscle Biopsy and MRI Findings in ANO5\u2010Related Myopathy","volume":"64","author":"Holm\u2010Yildiz S.","year":"2021","journal-title":"Muscle and Nerve"},{"issue":"1","key":"e_1_2_10_26_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00401-022-02510-8","article-title":"Loss of Function Variants in DNAJB4 Cause a Myopathy With Early Respiratory Failure","volume":"145","author":"Weihl C. C.","year":"2023","journal-title":"Acta Neuropathologica"},{"issue":"3","key":"e_1_2_10_27_1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s00401-020-02257-0","article-title":"Making Sense of Missense Variants in TTN\u2010Related Congenital Myopathies","volume":"141","author":"Rees M.","year":"2021","journal-title":"Acta Neuropathologica"},{"key":"e_1_2_10_28_1","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.1064474","article-title":"A Spectrum of Clinical Severity of Recessive Titinopathies in Prenatal","volume":"13","author":"Qi Y.","year":"2022","journal-title":"Frontiers in Genetics"},{"issue":"12","key":"e_1_2_10_29_1","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.nmd.2008.07.010","article-title":"Truncating Mutations in C\u2010Terminal Titin May Cause More Severe Tibial Muscular Dystrophy (TMD)","volume":"18","author":"Hackman P.","year":"2008","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"e_1_2_10_30_1","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1007\/s00415-019-09187-2","article-title":"Expanding the Importance of HMERF Titinopathy: New Mutations and Clinical Aspects","volume":"266","author":"Palmio J.","year":"2019","journal-title":"Journal of Neurology"},{"issue":"4","key":"e_1_2_10_31_1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/j.1742-4658.2010.07987.x","article-title":"Serine\u2010Arginine Protein Kinases: A Small Protein Kinase Family With a Large Cellular Presence","volume":"278","author":"Giannakouros T.","year":"2011","journal-title":"FEBS Journal"},{"issue":"3","key":"e_1_2_10_32_1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3233\/JND-160158","article-title":"Increasing Role of Titin Mutations in Neuromuscular Disorders","volume":"3","author":"Savarese M.","year":"2016","journal-title":"Journal of Neuromuscular Diseases"},{"issue":"2","key":"e_1_2_10_33_1","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0116454","article-title":"Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X\u2010Linked Intellectual Disability Genes","volume":"10","author":"Niranjan T. S.","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"e_1_2_10_34_1","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.cell.2015.04.013","article-title":"Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders","volume":"161","author":"Sahni N.","year":"2015","journal-title":"Cell"}],"container-title":["Annals of Clinical and Translational Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70401","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/acn3.70401","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/acn3.70401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:21:11Z","timestamp":1778818871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/acn3.70401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,14]]},"references-count":33,"alternative-id":["10.1002\/acn3.70401"],"URL":"https:\/\/doi.org\/10.1002\/acn3.70401","archive":["Portico"],"relation":{},"ISSN":["2328-9503","2328-9503"],"issn-type":[{"value":"2328-9503","type":"print"},{"value":"2328-9503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,14]]},"assertion":[{"value":"2026-02-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"acn3.70401"}}