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The DMD gene and therapeutic approaches to restore dystrophin.
Fortunato F, Farnè M, Ferlini A. Fortunato F, et al. Neuromuscul Disord. 2021 Oct;31(10):1013-1020. doi: 10.1016/j.nmd.2021.08.004. Neuromuscul Disord. 2021. PMID: 34736624 Review.
Duchenne muscular dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle weakness. It is caused by a variety of DMD gene pathogenic variations (large deletions or duplications, and small mutations) which leads to the absence or to a decreas …
Duchenne muscular dystrophy (DMD) is a severe X-linked disease characterized by progressive muscle weakness. It is caused by a variet …
Dystrophinopathies.
Jayaraman D, Ghosh PS. Jayaraman D, et al. Continuum (Minneap Minn). 2025 Oct;31(5):1462-1485. doi: 10.1212/cont.0000000000001618. Epub 2025 Oct 2. Continuum (Minneap Minn). 2025. PMID: 41037163 Review.
OBJECTIVE: This article provides an overview of the dystrophinopathies, which are primary muscle disorders inherited in an X-linked recessive fashion due to pathogenic variants in DMD on chromosome Xp21 encoding the protein dystrophin. These include Duchenne and Bec …
OBJECTIVE: This article provides an overview of the dystrophinopathies, which are primary muscle disorders inherited in an X-linked recessiv …
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.
de Frutos F, Ochoa JP, Fernández AI, Gallego-Delgado M, Navarro-Peñalver M, Casas G, Basurte MT, Larrañaga-Moreira JM, Mogollón MV, Robles-Mezcua A, García-Granja PE, Climent V, Palomino-Doza J, García-Álvarez A, Brion M, Brugada R, Jiménez-Jáimez J, Bayes-Genis A, Ripoll-Vera T, Peña-Peña ML, Rodríguez-Palomares JF, Gonzalez-Carrillo J, Villacorta E, Espinosa MA, Garcia-Pavia P, Mirelis JG. de Frutos F, et al. Eur Heart J Cardiovasc Imaging. 2023 Dec 21;25(1):75-85. doi: 10.1093/ehjci/jead184. Eur Heart J Cardiovasc Imaging. 2023. PMID: 37562008 Free PMC article.
AIMS: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. ...LGE was absent or rare in patients w …
AIMS: Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little inf …
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.
Souidi M, Resta J, Dridi H, Sleiman Y, Reiken S, Formoso K, Colombani S, Amédro P, Meyer P, Charrabi A, Vincenti M, Liu Y, Soni RK, Lezoualc'h F, Stéphane Blot DVM, Rivier F, Cazorla O, Parini A, Marks AR, Mialet-Perez J, Lacampagne A, Meli AC. Souidi M, et al. J Cachexia Sarcopenia Muscle. 2024 Apr;15(2):536-551. doi: 10.1002/jcsm.13411. Epub 2024 Jan 14. J Cachexia Sarcopenia Muscle. 2024. PMID: 38221511 Free PMC article.
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive muscle weakness due to the absence of functional dystrophin. DMD patients also develop dilated cardiomyopathy (DCM). We have previously shown that …
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked disorder characterized by progressive muscle weakness due to the absence …
DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.
Johnson R, Otway R, Chin E, Horvat C, Ohanian M, Wilcox JAL, Su Z, Prestes P, Smolnikov A, Soka M, Guo G, Rath E, Chakravorty S, Chrzanowski L, Hayward CS, Keogh AM, Macdonald PS, Giannoulatou E, Chang ACY, Oates EC, Charchar F, Seidman JG, Seidman CE, Hegde M, Fatkin D. Johnson R, et al. Circ Genom Precis Med. 2023 Oct;16(5):421-430. doi: 10.1161/CIRCGEN.123.004221. Epub 2023 Sep 6. Circ Genom Precis Med. 2023. PMID: 37671549 Free PMC article.
BACKGROUND: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. ...All of the …
BACKGROUND: Variants in the DMD gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated …
Impact of genotype-phenotype associations on prognosis in dilated cardiomyopathy.
Stroeks SLVM, Wang P, Merlo M, Muller S, Paldino A, Mora-Ayestaran N, Jason M, Ferro MD, Pio Loco Detto Gava C, Dominguez F, Gonzalez-Lopez E, van den Wijngaard A, Venner MFGHM, Sikking M, Minten M, Nihant B, Beelen N, Graw S, Medo K, de Koning B, Taylor M, van Tintelen JP, Mestroni L, Sinagra G, Te Riele ASJM, Garcia-Pavia P, Heymans S, Verdonschot JAJ. Stroeks SLVM, et al. Eur J Heart Fail. 2025 Dec;27(12):3205-3218. doi: 10.1002/ejhf.70040. Epub 2025 Sep 12. Eur J Heart Fail. 2025. PMID: 40938777 Free PMC article.
AIMS: Dilated cardiomyopathy (DCM) has a monogenic aetiology in up to 40% of patients. Understanding the spectrum of genotype-phenotype associations in DCM is crucial for risk stratification and personalized treatment. ...FLNC, LMNA, DSP, and PLN variants were linke …
AIMS: Dilated cardiomyopathy (DCM) has a monogenic aetiology in up to 40% of patients. Understanding the spectrum of genotype- …
Advances in Dystrophinopathy Diagnosis and Therapy.
Saad FA, Siciliano G, Angelini C. Saad FA, et al. Biomolecules. 2023 Aug 28;13(9):1319. doi: 10.3390/biom13091319. Biomolecules. 2023. PMID: 37759719 Free PMC article. Review.
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy. ...However, angiotensin-converting enzyme (ACE) inhibitors, angiotensin recept …
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker …
Cardiac CIP protein regulates dystrophic cardiomyopathy.
He X, Liu J, Gu F, Chen J, Lu YW, Ding J, Guo H, Nie M, Kataoka M, Lin Z, Hu X, Chen H, Liao X, Dong Y, Min W, Deng ZL, Pu WT, Huang ZP, Wang DZ. He X, et al. Mol Ther. 2022 Feb 2;30(2):898-914. doi: 10.1016/j.ymthe.2021.08.022. Epub 2021 Aug 14. Mol Ther. 2022. PMID: 34400329 Free PMC article.
Heart failure is a leading cause of fatality in Duchenne muscular dystrophy (DMD) patients. Previously, we discovered that cardiac and skeletal-muscle-enriched CIP proteins play important roles in cardiac function. Here, we report that CIP, a striated muscle-specific prote …
Heart failure is a leading cause of fatality in Duchenne muscular dystrophy (DMD) patients. Previously, we discovered that cardiac an …
Ptpn23 Controls Cardiac T-Tubule Patterning by Promoting the Assembly of Dystrophin-Glycoprotein Complex.
Xu C, Zhang G, Wang X, Huang X, Zhang J, Han S, Wang J, Hall DD, Xu R, He F, Chang X, Wang F, Xie W, Wu Z, Song LS, Han P. Xu C, et al. Circulation. 2024 Apr 23;149(17):1375-1390. doi: 10.1161/CIRCULATIONAHA.123.065767. Epub 2024 Jan 12. Circulation. 2024. PMID: 38214189 Free PMC article.
We also perturbed the DGC by using dystrophin global knockout mice (Dmd(E4*)). MM 4-64 and Di-8-ANEPPS staining, Cav3 immunofluorescence, and transmission electron microscopy were performed to determine T-tubule structure in isolated cells and intact hearts. ...RESU …
We also perturbed the DGC by using dystrophin global knockout mice (Dmd(E4*)). MM 4-64 and Di-8-ANEPPS staining, Cav3 immunofl …
101 results