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Review
. 2025:1478:245-284.
doi: 10.1007/978-3-031-88361-3_11.

Muscular Dystrophies

Affiliations
Review

Muscular Dystrophies

Yi-Wen Chen et al. Adv Exp Med Biol. 2025.

Abstract

Skeletal muscles remodel and regenerate in response to physiological and pathological conditions. Muscle disorders can be caused by disturbance of molecular and cellular pathways that are important in maintaining muscle homeostasis in response to physiological stimuli and environmental challenges. Muscular dystrophies are a heterogeneous group of rare, progressive diseases involving muscle degeneration and regeneration, with defects and failure in regeneration contributing to muscle loss and functional decline. Currently, there is no cure for these diseases, although many therapeutic approaches are in development. In this chapter, we discuss genetic causes, disease mechanisms, and therapeutic development for the most common muscular dystrophies, including Duchenne muscular dystrophy (DMD), myotonic dystrophy (MD) facioscapulohumeral muscular dystrophy (FSHD), and limb-girdle muscular dystrophies (LGMD).

Keywords: Atrophy; Degeneration; Dystrophy; Myopathy; Regeneration.

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References

    1. Adams RA, Fernandes-Cerqueira C, Notarnicola A, Mertsching E, Xu Z, Lo W-S, Ogilvie K, Chiang KP, Ampudia J, Rosengren S, Cubitt A, King DJ, Mendlein JD, Yang X-L, Nangle LA, Lundberg IE, Jakobsson P-J, Schimmel P (2021) Serum-circulating his-tRNA synthetase inhibits organ-targeted immune responses. Cell Mol Immunol 18(6):1463–1475. https://doi.org/10.1038/s41423-019-0331-0 - DOI - PubMed
    1. Ait Benichou S, Jauvin D, De Serres-Bérard T, Bennett F, Rigo F, Gourdon G, Boutjdir M, Chahine M, Puymirat J (2022) Enhanced delivery of ligand-conjugated antisense oligonucleotides (C16-HA-ASO) targeting Dystrophia Myotonica protein kinase transcripts for the treatment of myotonic dystrophy type 1. Hum Gene Ther 33(15–16):810–820. https://doi.org/10.1089/hum.2022.069 - DOI - PubMed
    1. Al Tanoury Z, Zimmerman JF, Rao J, Sieiro D, McNamara HM, Cherrier T, Rodríguez-delaRosa A, Hick-Colin A, Bousson F, Fugier-Schmucker C, Marchiano F, Habermann B, Chal J, Nesmith AP, Gapon S, Wagner E, Gupta VA, Bassel-Duby R, Olson EN et al (2021) Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell–derived skeletal muscle in vitro. Proc Natl Acad Sci 118(28):e2022960118. https://doi.org/10.1073/pnas.2022960118 - DOI - PubMed - PMC
    1. Alungulese AL, García Soldevilla MA, Gordo Mañas R, Vidal Díaz MB (2022) Oculopharyngeal muscular dystrophy coexisting with myasthenia gravis. Pract Neurol 22(5):413–414. https://doi.org/10.1136/practneurol-2022-003429 - DOI
    1. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P (2007) Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci 104(3):991–996. https://doi.org/10.1073/pnas.0610270104 - DOI - PubMed - PMC

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