Research & Literature

Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.

Taglia A, Petillo R, D'Ambrosio P, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2015; (34(1)):9-13.

[Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy].

Magot A, Mercier S, Péréon Y

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2015; (22(12 Suppl 1)):12S31-6.

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

Banihani R, Baskin B, Halliday W, et al.

Journal of developmental and behavioral pediatrics : JDBP 2016; (37(3)):239-44 doi:10.1097/DBP.0000000000000262.

Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial.

Silva MC, Magalhães TA, Meira ZM, et al.

JAMA cardiology 2017; (2(2)):190-199 doi:10.1001/jamacardio.2016.4801.

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

Latimer R, Street N, Conway KC, et al.

Journal of child neurology 2017; (32(7)):663-670 doi:10.1177/0883073817701368.

Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series.

Papa AA, D'Ambrosio P, Petillo R, et al.

Intractable & rare diseases research 2017; (6(2)):95-101 doi:10.5582/irdr.2017.01024.

Detection and management of cardiomyopathy in female dystrophinopathy carriers.

Adachi K, Hashiguchi S, Saito M, et al.

Journal of the neurological sciences 2018; (386()):74-80 doi:10.1016/j.jns.2017.12.024.

Clinical Utility Gene Card for: Becker muscular dystrophy.

Coote D, Davis MR, Cabrera M, et al.

European journal of human genetics : EJHG 2018; (26(7)):1065-1071 doi:10.1038/s41431-017-0064-4.

Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study.

Nakamura Y, Saito Y, Kubota N, et al.

Brain & development 2018; (40(7)):537-543 doi:10.1016/j.braindev.2018.02.012.

Dystrophin As a Molecular Shock Absorber.

Le S, Yu M, Hovan L, et al.

ACS nano 2018; (12(12)):12140-12148 doi:10.1021/acsnano.8b05721.

Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy.

Bostock EL, Edwards BT, Jacques MF, et al.

Nutrients 2018; (10(12)) doi:10.3390/nu10121947.

Progressive left ventricular dysfunction and myocardial fibrosis in Duchenne and Becker muscular dystrophy: a longitudinal cardiovascular magnetic resonance study.

Aikawa T, Takeda A, Oyama-Manabe N, et al.

Pediatric cardiology 2019; (40(2)):384-392 doi:10.1007/s00246-018-2046-x.

Analysis of motor and respiratory function in Duchenne muscular dystrophy patients.

Luiz LC, Marson FAL, Bresciani Almeida CC, et al.

Respiratory physiology & neurobiology 2019; (262()):1-11 doi:10.1016/j.resp.2019.01.009.

[Genetic analysis and prenatal diagnosis of Duchenne or Becker muscular dystrophy].

Zhao W, Jiang N, Li S, et al.

Zhonghua fu chan ke za zhi 2019; (54(4)):226-231 doi:10.3760/cma.j.issn.0529-567x.2019.04.003.

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study.

Ansar Z, Nasir A, Moatter T, et al.

Genetic testing and molecular biomarkers 2019; (23(7)):468-472 doi:10.1089/gtmb.2018.0262.

Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.

Kyhl K, Róin T, Lund A, et al.

Scientific reports 2019; (9(1)):13909 doi:10.1038/s41598-019-50458-9.

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Jones HF, Bryen SJ, Waddell LB, et al.

Neuromuscular disorders : NMD 2019; (29(12)):913-919 doi:10.1016/j.nmd.2019.09.013.

The Hypertrophic Cardiomyopathy Phenotype Viewed Through the Prism of Multimodality Imaging: Clinical and Etiologic Implications.

Rowin EJ, Maron BJ, Maron MS

JACC. Cardiovascular imaging 2020; (13(9)):2002-2016 doi:10.1016/j.jcmg.2019.09.020.

Neurodevelopmental, behavioral, and emotional symptoms common in Duchenne muscular dystrophy.

Darmahkasih AJ, Rybalsky I, Tian C, et al.

Muscle & nerve 2020; (61(4)):466-474 doi:10.1002/mus.26803.

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report.

Komaki R, Hashimoto Y, Mori-Yoshimura M, et al.

Journal of human genetics 2020; (65(10)):903-909 doi:10.1038/s10038-020-0788-9.

[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

Niu HH, Tao DY, Cheng SQ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2020; (22(6)):602-607.

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

Mori-Yoshimura M, Oya Y, Komaki H, et al.

Journal of neuromuscular diseases 2020; (7(4)):425-431 doi:10.3233/JND-190438.

Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study.

De Wel B, Willaert S, Nadaj-Pakleza A, et al.

Neuromuscular disorders : NMD 2021; (31(3)):174-182 doi:10.1016/j.nmd.2020.12.010.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

Waddell LB, Bryen SJ, Cummings BB, et al.

Neurology. Genetics 2021; (7(1)):e554 doi:10.1212/NXG.0000000000000554.

Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers.

Shehta M, Rayan MM, Fahmy NA, et al.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 2021; (73(1)):91 doi:10.1186/s43044-021-00214-0.

Orthotopic Heart Transplantation in Manifesting Carrier of Duchenne Muscular Dystrophy.

Cullom C, Vo V, McCabe MD

Journal of cardiothoracic and vascular anesthesia 2022; (36(8 Pt A)):2593-2599 doi:10.1053/j.jvca.2021.09.047.

Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.

Gaina G, Vossen RHAM, Manole E, et al.

Frontiers in neurology 2021; (12()):718396 doi:10.3389/fneur.2021.718396.

Electrocardiographic prediction of late gadolinium enhancement on cardiac magnetic resonance in Becker muscular dystrophy.

Bennett JS, Kamp AN, Cripe LH, Hor KN

Neuromuscular disorders : NMD 2022; (32(1)):43-49 doi:10.1016/j.nmd.2021.09.011.

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Salari N, Fatahi B, Valipour E, et al.

Journal of orthopaedic surgery and research 2022; (17(1)):96 doi:10.1186/s13018-022-02996-8.

Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: A systematic review of literature.

Ferrero A, Rossi M

Neuroscience and biobehavioral reviews 2022; (137()):104648 doi:10.1016/j.neubiorev.2022.104648.

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases.

Del Rio-Pertuz G, Morataya C, Parmar K, et al.

Orphanet journal of rare diseases 2022; (17(1)):194 doi:10.1186/s13023-022-02346-1.

Dystrophin missense mutations alter focal adhesion tension and mechanotransduction.

Ramirez MP, Anderson MJM, Kelly MD, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(25)):e2205536119 doi:10.1073/pnas.2205536119.

Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy.

Ma YL, Zhang WH, Chen GH, et al.

Frontiers in pediatrics 2022; (10()):985878 doi:10.3389/fped.2022.985878.

Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis.

Weerkamp PMM, Mol EM, Sweere DJJ, et al.

Brain sciences 2022; (12(11)) doi:10.3390/brainsci12111544.

A longitudinal study of creatine kinase and creatinine levels in Duchenne muscular dystrophy.

Zygmunt AM, Wong BL, Horn PS, et al.

Muscle & nerve 2023; (67(2)):138-145 doi:10.1002/mus.27760.

Heart Failure as the Initial Clinical Manifestation of Becker Muscular Dystrophy in an Adult.

Del Rio-Pertuz G, Morataya C, Ratheal K, et al.

Texas Heart Institute journal 2022; (49(6)) doi:10.14503/THIJ-21-7634.

Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy.

Russell AJ, DuVall M, Barthel B, et al.

The Journal of clinical investigation 2023; (133(10)).

In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.

Egorova TV, Galkin II, Velyaev OA, et al.

International journal of molecular sciences 2023; (24(11)) doi:10.3390/ijms24119117.

Diagnosis and management of Becker muscular dystrophy: the French guidelines.

Magot A, Wahbi K, Leturcq F, et al.

Journal of neurology 2023; (270(10)):4763-4781 doi:10.1007/s00415-023-11837-5.

Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in bmx model mice.

McCormack NM, Nguyen NY, Tully CB, et al.

iScience 2023; (26(7)):107161 doi:10.1016/j.isci.2023.107161.

Case report: A rare case of left ventricular noncompaction in two Chinese siblings with becker muscular dystrophy caused by deletion of exons 10 to 12 in the DMD gene.

Li J, Zhu W, Su G, et al.

Frontiers in cardiovascular medicine 2023; (10()):1243825 doi:10.3389/fcvm.2023.1243825.

Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.

Pezzoni L, Brusa R, Difonzo T, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(4)):1691-1698 doi:10.1007/s10072-023-07169-x.

Findings from the Longitudinal CINRG Becker Natural History Study.

Clemens PR, Gordish-Dressman H, Niizawa G, et al.

Journal of neuromuscular diseases 2024; (11(1)):201-212 doi:10.3233/JND-230178.

Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy.

Al-Raqad MK, Alwahsh S, Hejazi IS, et al.

Cureus 2023; (15(10)):e47553 doi:10.7759/cureus.47553.

Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.

Ricci G, Govoni A, Torri F, et al.

Journal of neuromuscular diseases 2024; (11(2)):375-387 doi:10.3233/JND-221513.

Duchenne and Becker muscular dystrophy: Cellular mechanisms, image analysis, and computational models: A review.

Escobar-Huertas JF, Vaca-González JJ, Guevara JM, et al.

Cytoskeleton (Hoboken, N.J.) 2024; (81(6-7)):269-286 doi:10.1002/cm.21826.

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.

Sun MX, Jing M, Hua Y, et al.

BMC medical genomics 2024; (17(1)):46 doi:10.1186/s12920-024-01794-x.

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Davies KE, Vogt J

Neuromuscular disorders : NMD 2024; (39()):5-9 doi:10.1016/j.nmd.2024.04.004.

Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago.

Diehl E, O'Neill M, Gray L, et al.

Pediatric neurology 2024; (158()):94-99 doi:10.1016/j.pediatrneurol.2024.05.011.

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A Systematic Review.

Pascual-Morena C, Lucerón-Lucas-Torres M, Martínez-García I, et al.

Paediatric drugs 2024; (26(6)):695-707 doi:10.1007/s40272-024-00655-5.

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Shen F, Zhou H

Frontiers in neuroscience 2024; (18()):1459582 doi:10.3389/fnins.2024.1459582.

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

Neuhoff K, Kilicarslan OA, Preuße C, et al.

Biomedicines 2024; (12(12)) doi:10.3390/biomedicines12122738.

Multi-Parametric Quantitative MRI in the Early Differential Diagnosis of Ambulatory Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

Peng F, Xu H, Xu T, et al.

Journal of magnetic resonance imaging : JMRI 2025; (62(2)):457-467 doi:10.1002/jmri.29755.

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.

Gerges S, Naoufal R, Mansour H

Journal of medical case reports 2025; (19(1)):101 doi:10.1186/s13256-025-05135-z.

Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.

You J, Kim MJ, Cha S, et al.

Journal of child neurology 2025; (40(7)):510-518 doi:10.1177/08830738251327248.

Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy.

Sharawat IK, Gupta D, Elwadhi A, et al.

Brain & development 2025; (47(3)):104350 doi:10.1016/j.braindev.2025.104350.

A Phase 1, Double-Blind, Placebo-Controlled Trial of Sevasemten (EDG-5506), a Selective Modulator of Fast Skeletal Muscle Contraction, in Healthy Volunteers and Adults With Becker Muscular Dystrophy.

Donovan J, Silverman JA, Barthel B, et al.

Muscle & nerve 2025; (72(3)):399-407 doi:10.1002/mus.28444.

Dystrophinopathies.

Jayaraman D, Ghosh PS

Continuum (Minneapolis, Minn.) 2025; (31(5)):1462-1485 doi:10.1212/cont.0000000000001618.

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.

Yuan Q, Liu C, Lu Y, et al.

The application of clinical genetics 2025; (18()):243-249 doi:10.2147/TACG.S544691.

Role of Cardiovascular Magnetic Resonance in Diagnosis and Management of Muscular Dystrophies.

Russo V, Hudelo J, Marcel M, et al.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2026; 102693 doi:10.1016/j.jocmr.2026.102693.

Quantitative MRI Findings and Their Relationship to Muscle Histopathology and Ambulatory Clinical Function in Duchenne Muscular Dystrophy.

Lu Y, Yin L, Liu C, et al.

Journal of cachexia, sarcopenia and muscle 2026; (17(1)):e70205 doi:10.1002/jcsm.70205.

The natural history of Becker muscular dystrophy: A systematic literature review.

Mickle AT, Johnston KM, Ricchetti-Masterson KL, et al.

Journal of neuromuscular diseases 2026; 22143602261420045 doi:10.1177/22143602261420045.

Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Riguzzi P, Grover E, Schiava M, et al.

Journal of neurology, neurosurgery, and psychiatry 2026; (97(5)):456-463 doi:10.1136/jnnp-2025-337953.