{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T23:41:01Z","timestamp":1778715661277,"version":"3.51.4"},"reference-count":65,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T00:00:00Z","timestamp":1766534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background:\u00a0Duchenne\/Becker muscular dystrophy (DMD\/BMD) is associated with a wide spectrum of brain-related comorbidities.\u00a0Methods: This retrospective study assesses the neuropsychiatric profile of DMD\/BMD patients and the hypothesis of a functional-versus-structural approach of dystrophin gene variants\/impaired isoforms in relation to brain comorbidities. Patients with documented mutation in the DMD gene and neuropsychiatric assessments were included. Seven comorbidities were analyzed based on variant location and dystrophin brain isoform disruption. The clustering of comorbidities and genotype\u2013phenotype correlations were studied. Results: 264 DMD\/BMD patients met inclusion criteria. 22 variants have never been described before. A high prevalence of neuropsychiatric comorbidities was identified in the cohort with higher values in patients with distal mutations. The number of comorbidities increased with the number of brain dystrophin isoforms predicted to be lost. Functional-versus-structural comparison revealed that Dp140 5\u2032UTR variants might not affect protein expression. Epilepsy and intellectual disability (ID) showed significant association in this cohort. Neuropsychiatric phenotype varied greatly in patients with identical variants, even between siblings. Conclusions: This is one of the largest European cohorts for which all these comorbidities were studied in association with DMD gene mutation site and the first study of this kind performed on the Eastern European DMD\/BMD population. Our group analyzed, for the first time, Dp140 5\u2032UTR variants in relation to all neuropsychiatric phenotypes and showed that epilepsy and ID are strongly associated in DMD\/DMB patients.<\/jats:p>","DOI":"10.3390\/genes17010012","type":"journal-article","created":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T09:58:34Z","timestamp":1766570314000},"page":"12","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Brain Matters in Duchenne Muscular Dystrophy: DMD Mutation Sites and Their Association with Neurological Comorbidities Through Isoform Impairment"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9698-6292","authenticated-orcid":false,"given":"Teodora","family":"Barbarii","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020032 Bucharest, Romania"},{"name":"Romanian Group for Undiagnosed Rare Diseases, Genomics Research and Development Institute, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9537-6011","authenticated-orcid":false,"given":"Raluca Anca","family":"Tudorache","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4156-6812","authenticated-orcid":false,"given":"Dana","family":"Craiu","sequence":"additional","affiliation":[{"name":"Romanian Group for Undiagnosed Rare Diseases, Genomics Research and Development Institute, 020021 Bucharest, Romania"},{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Neagu","sequence":"additional","affiliation":[{"name":"Dr. Nicolae Robanescu National Clinical Center for Children Neurorehabilitation, 041408 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2337-2582","authenticated-orcid":false,"given":"Lacramioara Aurelia","family":"Brinduse","sequence":"additional","affiliation":[{"name":"Public Health and Management Department, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050463 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Magdalena","family":"Burloiu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9194-3894","authenticated-orcid":false,"given":"Catrinel Mihaela","family":"Iliescu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2861-236X","authenticated-orcid":false,"given":"Magdalena","family":"Budisteanu","sequence":"additional","affiliation":[{"name":"Research Department for Psychiatry, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, 041914 Bucharest, Romania"},{"name":"Medical Genetics Laboratory, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania"},{"name":"Department of Genetics, Faculty of Medicine, \u201cTitu Maiorescu\u201d University, 040051 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Minciu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6223-6383","authenticated-orcid":false,"given":"Diana Gabriela","family":"Barca","sequence":"additional","affiliation":[{"name":"Romanian Group for Undiagnosed Rare Diseases, Genomics Research and Development Institute, 020021 Bucharest, Romania"},{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4301-9815","authenticated-orcid":false,"given":"Carmen","family":"Sandu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9690-456X","authenticated-orcid":false,"given":"Oana","family":"Tarta-Arsene","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Pomeran","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Motoescu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5329-4466","authenticated-orcid":false,"given":"Alice","family":"Dica","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Anghelescu","sequence":"additional","affiliation":[{"name":"Ioana Medical Center, 011053 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Surlica","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian Ioan","family":"Toma","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cTitu Maiorescu\u201d University, 040051 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0645-7568","authenticated-orcid":false,"given":"Niculina","family":"Butoianu","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Discipline, Department of Neurosciences, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 050474 Bucharest, Romania"},{"name":"Pediatric Neurology Clinic, \u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital, Expertise Center for Rare Pediatric Neurology Disorders, EpiCARE Full Member, 041914 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0140-6736(02)07815-7","article-title":"The muscular dystrophies","volume":"359","author":"Emery","year":"2002","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1093\/brain\/awf012","article-title":"Brain function in Duchenne muscular dystrophy","volume":"125","author":"Anderson","year":"2002","journal-title":"Brain"},{"key":"ref_3","first-page":"497","article-title":"Intelligence and Duchenne muscular dystrophy: Full-scale, verbal, and performance intelligence quotients","volume":"43","author":"Cotton","year":"2001","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1017\/S0012162205000496","article-title":"Association between intellectual functioning and age in children and young adults with Duchenne muscular dystrophy: Further results from a meta-analysis","volume":"47","author":"Cotton","year":"2005","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_5","unstructured":"Wilkins, R.H., and Brody, I.A. (1973). Studies on pseudohypertrophic muscular paralysis or myosclerotic paralysis. Neurological Classics, American Association of Neurological Surgeons."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.jpeds.2009.02.007","article-title":"Delayed diagnosis in duchenne muscular dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)","volume":"155","author":"Ciafaloni","year":"2009","journal-title":"J. Pediatr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: One gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/348725a0","article-title":"Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons","volume":"348","author":"Lidov","year":"1990","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/0306-4522(93)90392-S","article-title":"The distribution of dystrophin in the murine central nervous system: An immunocytochemical study","volume":"54","author":"Lidov","year":"1993","journal-title":"Neuroscience"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/344064a0","article-title":"Dystrophin gene transcribed from different promoters in neuronal and glial cells","volume":"344","author":"Chelly","year":"1990","journal-title":"Nature"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00028.2001","article-title":"Function and genetics of dystrophin and dystrophin-related proteins in muscle","volume":"82","author":"Blake","year":"2002","journal-title":"Physiol. Rev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1093\/hmg\/4.5.837","article-title":"A novel dystrophin isoform is required for normal retinal electrophysiology","volume":"4","author":"Nguyen","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.1750-3639.1996.tb00780.x","article-title":"Dystrophin and its isoforms","volume":"6","author":"Kunkel","year":"1996","journal-title":"Brain Pathol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/S0960-8966(99)00108-X","article-title":"Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies","volume":"10","author":"Bardoni","year":"2000","journal-title":"Neuromuscul. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0593-77","article-title":"An alternative dystrophin transcript specific to peripheral nerve","volume":"4","author":"Byers","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S0960-8966(99)00105-4","article-title":"Expression and synthesis of alternatively spliced variants of Dp71 in adult human brain","volume":"10","author":"Austin","year":"2000","journal-title":"Neuromuscul. Disord."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations","volume":"58","author":"Ricotti","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/(SICI)1096-8628(19981102)80:1<32::AID-AJMG6>3.0.CO;2-Y","article-title":"Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?","volume":"80","author":"Moizard","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.pediatrneurol.2011.08.003","article-title":"Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site","volume":"45","author":"Lorusso","year":"2011","journal-title":"Pediatr. Neurol."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Taylor, P.J., Betts, G.A., Maroulis, S., Gilissen, C., Pedersen, R.L., Mowat, D.R., Johnston, H.M., and Buckley, M.F. (2010). Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0008803"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1006\/bbrc.1995.2474","article-title":"Apo-dystrophins (Dp140 and Dp71) and dystrophin splicing isoforms in developing brain","volume":"215","author":"Morris","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1080\/09297049.2012.660912","article-title":"Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne muscular dystrophy","volume":"19","author":"Lorusso","year":"2013","journal-title":"Child. Neuropsychol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.jpeds.2012.03.020","article-title":"Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: Phenotype-genotype correlation","volume":"161","author":"Pane","year":"2012","journal-title":"J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1177\/0883073807309775","article-title":"Neuropsychiatric disorders in males with duchenne muscular dystrophy: Frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder","volume":"23","author":"Hendriksen","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.pediatrneurol.2009.05.011","article-title":"Association of autistic spectrum disorders with dystrophinopathies","volume":"41","author":"Hinton","year":"2009","journal-title":"Pediatr. Neurol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1177\/08830738050200100201","article-title":"Association of Duchenne muscular dystrophy with autism spectrum disorder","volume":"20","author":"Wu","year":"2005","journal-title":"J. Child. Neurol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/mus.26803","article-title":"Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy","volume":"61","author":"Darmahkasih","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S1090-3798(97)80042-6","article-title":"Epilepsy in Duchenne and Becker muscular dystrophies","volume":"1","author":"Goodwin","year":"1997","journal-title":"Eur. J. Paediatr."},{"key":"ref_30","first-page":"116","article-title":"Epilepsy in boys with Duchenne Muscular Dystrophy","volume":"3","author":"Etemadifar","year":"2004","journal-title":"J. Res. Med. Sci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.nmd.2013.01.011","article-title":"Duchenne muscular dystrophy and epilepsy","volume":"23","author":"Pane","year":"2013","journal-title":"Neuromuscul. Disord."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.ejpn.2017.12.004","article-title":"Brain-related comorbidities in boys and men with Duchenne Muscular Dystrophy: A descriptive study","volume":"22","author":"Hendriksen","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/S1474-4422(18)30026-7","article-title":"DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: Primary care, emergency management, psychosocial care, and transitions of care across the lifespan","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"(1981). Proposal for revised clinical and electroencephalographic classification of epileptic seizures. From the Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia, 22, 489\u2013501.","DOI":"10.1111\/j.1528-1157.1981.tb06159.x"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1111\/epi.13670","article-title":"Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Fisher","year":"2017","journal-title":"Epilepsia"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"ref_38","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","year":"2015","journal-title":"Genet. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/s41436-019-0655-2","article-title":"Adapting ACMG\/AMP sequence variant classification guidelines for single-gene copy number variants","volume":"22","author":"Brandt","year":"2020","journal-title":"Genet. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e1597","DOI":"10.1212\/WNL.0000000000008363","article-title":"Relationships between DMD mutations and neurodevelopment in dystrophinopathy","volume":"93","author":"Thangarajh","year":"2019","journal-title":"Neurology"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.ejpn.2017.02.007","article-title":"Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample","volume":"21","author":"Colombo","year":"2017","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1177\/0883073815570154","article-title":"Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy","volume":"30","author":"Banihani","year":"2015","journal-title":"J. Child. Neurol."},{"key":"ref_43","first-page":"849426","article-title":"Dystrophins, utrophins, and associated scaffolding complexes: Role in mammalian brain and implications for therapeutic strategies","volume":"2010","author":"Perronnet","year":"2010","journal-title":"J. Biomed. Biotechnol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1093\/brain\/awn253","article-title":"A deficit of brain dystrophin impairs specific amygdala GABAergic transmission and enhances defensive behaviour in mice","volume":"132","author":"Sekiguchi","year":"2009","journal-title":"Brain"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Daoud, F., Candelario-Martinez, A., Billard, J.M., Avital, A., Khelfaoui, M., Rozenvald, Y., Guegan, M., Mornet, D., Jaillard, D., and Nudel, U. (2008). Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functions. PLoS ONE, 4, Erratum in PLoS ONE\u00a02010, 5. https:\/\/doi.org\/10.1371\/annotation\/1cf456c8-c517-4f04-9e98-8f3ee3b29ce3.","DOI":"10.1371\/annotation\/1cf456c8-c517-4f04-9e98-8f3ee3b29ce3"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/hmg\/4.3.329","article-title":"Dp140: A novel 140 kDa CNS transcript from the dystrophin locus","volume":"4","author":"Lidov","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"12575","DOI":"10.1038\/s41598-017-12981-5","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"7","author":"Doorenweerd","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ana.24222","article-title":"Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy","volume":"76","author":"Doorenweerd","year":"2014","journal-title":"Ann. Neurol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1007\/s00415-021-10789-y","article-title":"Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: Classifying and subtyping based on Dp140 dystrophin isoform","volume":"269","author":"Shah","year":"2022","journal-title":"J. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.neuroscience.2004.06.079","article-title":"The role of utrophin and Dp71 for assembly of different dystrophin-associated protein complexes (DPCs) in the choroid plexus and microvasculature of the brain","volume":"129","author":"Haenggi","year":"2004","journal-title":"Neuroscience"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddp320","article-title":"Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression","volume":"18","author":"Daoud","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"28387","DOI":"10.1074\/jbc.M402604200","article-title":"The potassium channel Kir4.1 associates with the dystrophin-glycoprotein complex via alpha-syntrophin in glia","volume":"279","author":"Connors","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Hendriksen, R.G., Schipper, S., Hoogland, G., Schijns, O.E., Dings, J.T., Aalbers, M.W., and Vles, J.S. (2016). Dystrophin Distribution and Expression in Human and Experimental Temporal Lobe Epilepsy. Front. Cell Neurosci., 10.","DOI":"10.3389\/fncel.2016.00174"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/hipo.23015","article-title":"The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning","volume":"29","author":"Hoogland","year":"2019","journal-title":"Hippocampus"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"3461","DOI":"10.1007\/s00415-022-11040-y","article-title":"Epileptic disorders in Becker and Duchenne muscular dystrophies: A systematic review and meta-analysis","volume":"269","year":"2022","journal-title":"J. Neurol."},{"key":"ref_56","first-page":"25","article-title":"Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location","volume":"17","author":"Hoogland","year":"2015","journal-title":"Balkan J. Med. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1111\/j.1469-8749.1995.tb12000.x","article-title":"Deletion status and intellectual impairment in Duchenne muscular dystrophy","volume":"37","author":"Bushby","year":"1995","journal-title":"Dev. Med. Child. Neurol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/0960-8966(92)90059-F","article-title":"Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability","volume":"2","author":"Hodgson","year":"1992","journal-title":"Neuromuscul. Disord."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.2217\/epi-2021-0074","article-title":"Cataloging recent advances in epigenetic alterations in major mental disorders and autism","volume":"13","author":"Abdolmaleky","year":"2021","journal-title":"Epigenomics"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/ana.26409","article-title":"Partial Restoration of Brain Dystrophin and Behavioral Deficits by Exon Skipping in the Muscular Dystrophy X-Linked (mdx) Mouse","volume":"92","author":"Zarrouki","year":"2022","journal-title":"Ann. Neurol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.omtn.2023.03.009","article-title":"Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice","volume":"32","author":"Saoudi","year":"2023","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"102288","DOI":"10.1016\/j.pneurobio.2022.102288","article-title":"Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy","volume":"216","author":"Hashimoto","year":"2022","journal-title":"Prog. Neurobiol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nm.3765","article-title":"Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers","volume":"21","author":"Goyenvalle","year":"2015","journal-title":"Nat. Med."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.omtn.2017.06.013","article-title":"Efficacy and Safety Profile of Tricyclo-DNA Antisense Oligonucleotides in Duchenne Muscular Dystrophy Mouse Model","volume":"8","author":"Relizani","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/1\/12\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T10:10:18Z","timestamp":1766571018000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/1\/12"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,24]]},"references-count":65,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["genes17010012"],"URL":"https:\/\/doi.org\/10.3390\/genes17010012","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,24]]}}}