Bell CD, Conen PE (1968) Histopathological changes in Duchenne muscular dystrophy. J Neurol Sci 7:529–544. https://doi.org/10.1016/0022-510x(68)90058-0
Article CAS PubMed Google Scholar
Bettica P, Petrini S, D’Oria V, D’Amico A, Catteruccia M, Pane M, Sivo S, Magri F, Brajkovic S, Messina S et al (2016) Histological effects of givinostat in boys with Duchenne muscular dystrophy. Neuromuscul Disord 26:643–649. https://doi.org/10.1016/j.nmd.2016.07.002
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S et al (2018) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 17:251–267. https://doi.org/10.1016/S1474-4422(18)30024-3
Article PubMed PubMed Central Google Scholar
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T et al (2015) The TREAT-NMD DMD Global Database: analysis of more than 7000 Duchenne muscular dystrophy mutations. Hum Mutat 36:395–402. https://doi.org/10.1002/humu.22758
Article CAS PubMed PubMed Central Google Scholar
Bohm J, Barthelemy I, Landwerlin C, Blanchard-Gutton N, Relaix F, Blot S, Laporte J, Tiret L (2022) A dog model for centronuclear myopathy carrying the most common DNM2 mutation. Dis Model Mech. https://doi.org/10.1242/dmm.049219
Article PubMed PubMed Central Google Scholar
Broomfield J, Hill M, Guglieri M, Crowther M, Abrams K (2021) Life expectancy in duchenne muscular dystrophy: reproduced individual patient data meta-analysis. Neurology 97:e2304–e2314. https://doi.org/10.1212/WNL.0000000000012910
Article PubMed PubMed Central Google Scholar
Chemello F, Wang Z, Li H, McAnally JR, Liu N, Bassel-Duby R, Olson EN (2020) Degenerative and regenerative pathways underlying Duchenne muscular dystrophy revealed by single-nucleus RNA sequencing. Proc Natl Acad Sci U S A 117:29691–29701. https://doi.org/10.1073/pnas.2018391117
Article CAS PubMed PubMed Central Google Scholar
Desguerre I, Christov C, Mayer M, Zeller R, Becane HM, Bastuji-Garin S, Leturcq F, Chiron C, Chelly J, Gherardi RK (2009) Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS ONE 4:e4347. https://doi.org/10.1371/journal.pone.0004347
Article CAS PubMed PubMed Central Google Scholar
Desguerre I, Mayer M, Leturcq F, Barbet JP, Gherardi RK, Christov C (2009) Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation. J Neuropathol Exp Neurol 68:762–773. https://doi.org/10.1097/NEN.0b013e3181aa31c2
Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A (2021) Duchenne muscular dystrophy. Nat Rev Dis Primers 7:13. https://doi.org/10.1038/s41572-021-00248-3
Article PubMed PubMed Central Google Scholar
Dumont NA, Bentzinger CF, Sincennes MC, Rudnicki MA (2015) Satellite cells and skeletal muscle regeneration. Compr Physiol 5:1027–1059. https://doi.org/10.1002/cphy.c140068
Dumont NA, Wang YX, von Maltzahn J, Pasut A, Bentzinger CF, Brun CE, Rudnicki MA (2015) Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division. Nat Med 21:1455–1463. https://doi.org/10.1038/nm.3990
Article CAS PubMed PubMed Central Google Scholar
Falzarano MS, Scotton C, Passarelli C, Ferlini A (2015) Duchenne muscular dystrophy: from diagnosis to therapy. Molecules 20:18168–18184. https://doi.org/10.3390/molecules201018168
Article CAS PubMed PubMed Central Google Scholar
Fischmann A, Hafner P, Fasler S, Gloor M, Bieri O, Studler U, Fischer D (2012) Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol 259:1648–1654. https://doi.org/10.1007/s00415-011-6393-2
Article CAS PubMed Google Scholar
Gorgoulis V, Adams PD, Alimonti A, Bennett DC, Bischof O, Bishop C, Campisi J, Collado M, Evangelou K, Ferbeyre G et al (2019) Cellular senescence: defining a path forward. Cell 179:813–827. https://doi.org/10.1016/j.cell.2019.10.005
Article CAS PubMed Google Scholar
Huang S, Bhattacharya A, Ghelfi MD, Li H, Fritsch C, Chenoweth DM, Goldman YE, Cooperman BS (2022) Ataluren binds to multiple protein synthesis apparatus sites and competitively inhibits release factor-dependent termination. Nat Commun 13:2413. https://doi.org/10.1038/s41467-022-30080-6
Article CAS PubMed PubMed Central Google Scholar
Kharraz Y, Guerra J, Pessina P, Serrano AL, Munoz-Canoves P (2014) Understanding the process of fibrosis in Duchenne muscular dystrophy. Biomed Res Int 2014:965631. https://doi.org/10.1155/2014/965631
Article PubMed PubMed Central Google Scholar
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H et al (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45:498–506
CAS PubMed PubMed Central Google Scholar
Kudlova N, De Sanctis JB, Hajduch M (2022) Cellular senescence: molecular targets, biomarkers, and senolytic drugs. Int J Mol Sci. https://doi.org/10.3390/ijms23084168
Article PubMed PubMed Central Google Scholar
Lemos DR, Babaeijandaghi F, Low M, Chang CK, Lee ST, Fiore D, Zhang RH, Natarajan A, Nedospasov SA, Rossi FM (2015) Nilotinib reduces muscle fibrosis in chronic muscle injury by promoting TNF-mediated apoptosis of fibro/adipogenic progenitors. Nat Med 21:786–794. https://doi.org/10.1038/nm.3869
Article CAS PubMed Google Scholar
Lim KR, Maruyama R, Yokota T (2017) Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther 11:533–545. https://doi.org/10.2147/DDDT.S97635
Article CAS PubMed PubMed Central Google Scholar
Malfatti E, Romero NB (2017) Diseases of the skeletal muscle. Handb Clin Neurol 145:429–451. https://doi.org/10.1016/B978-0-12-802395-2.00030-4
McDonald CM, Marden JR, Shieh PB, Wong BL, Lane H, Zhang A, Nguyen H, Frean M, Trifillis P, Koladicz K et al (2023) Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status. J Comp Eff Res 12:e220190. https://doi.org/10.57264/cer-2022-0190
Article PubMed PubMed Central Google Scholar
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C et al (2022) Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. J Comp Eff Res 11:139–155. https://doi.org/10.2217/cer-2021-0196
Article CAS PubMed Google Scholar
McDonald CM, Shieh PB, Abdel-Hamid HZ, Connolly AM, Ciafaloni E, Wagner KR, Goemans N, Mercuri E, Khan N, Koenig E et al (2021) Open-label evaluation of eteplirsen in patients with duchenne muscular dystrophy amenable to exon 51 skipping: PROMOVI trial. J Neuromuscul Dis 8:989–1001. https://doi.org/10.3233/JND-210643
Article PubMed PubMed Central Google Scholar
Mendell JR, Rodino-Klapac LR, Sahenk Z, Roush K, Bird L, Lowes LP, Alfano L, Gomez AM, Lewis S, Kota J et al (2013) Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 74:637–647. https://doi.org/10.1002/ana.23982
Article CAS PubMed Google Scholar
Moiseeva V, Cisneros A, Sica V, Deryagin O, Lai Y, Jung S, Andres E, An J, Segales J, Ortet L et al (2023) Senescence atlas reveals an aged-like inflamed niche that blunts muscle regeneration. Nature 613:169–178. https://doi.org/10.1038/s41586-022-05535-x
Article CAS PubMed Google Scholar
Moratal C, Arrighi N, Dechesne CA, Dani C (2019) Control of muscle fibro-adipogenic progenitors by myogenic lineage is altered in aging and duchenne muscular dystrophy. Cell Physiol Biochem 53:1029–1045. https://doi.org/10.33594/000000196
Article CAS PubMed Google Scholar
Peverelli L, Testolin S, Villa L, D’Amico A, Petrini S, Favero C, Magri F, Morandi L, Mora M, Mongini T et al (2015) Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy. Neurology 85:1886–1893. https://doi.org/10.1212/WNL.0000000000002147
Article CAS PubMed PubMed Central Google Scholar
Relaix F, Bencze M, Borok MJ, Der Vartanian A, Gattazzo F, Mademtzoglou D, Perez-Diaz S, Prola A, Reyes-Fernandez PC, Rotini A et al (2021) Perspectives on skeletal muscle stem cells. Nat Commun 12:692. https://doi.org/10.1038/s41467-020-20760-6
Article CAS PubMed PubMed Central Google Scholar
Rosenberg AS, Puig M, Nagaraju K, Hoffman EP, Villalta SA, Rao VA, Wakefield LM, Woodcock J (2015) Immune-mediated pathology in Duchenne muscular dystrophy. Sci Transl Med 7:299rv294. https://doi.org/10.1126/scitranslmed.aaa73223
Comments (0)