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Longitudinal Evaluation of Working Memory in Duchenne Muscular Dystrophy
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Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy

Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy
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Academic Editor: Pierre Gressens
J. Clin. Med. 2021, 10(4), 820; https://doi.org/10.3390/jcm10040820
Received: 15 January 2021 / Revised: 10 February 2021 / Accepted: 12 February 2021 / Published: 17 February 2021
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of pathogenic variations in the dystrophin gene in 1986, the underlining genotype/phenotype correlations emerged and the role of the dystrophin protein was elucidated in skeletal, smooth, and cardiac muscles, as well as in the brain. When the dystrophin protein is absent or quantitatively or qualitatively modified, the muscle cannot sustain the stress of repeated contractions. Dystrophin acts as a bridging and anchoring protein between the sarcomere and the sarcolemma, and its absence or reduction leads to severe muscle damage that eventually cannot be repaired, with its ultimate substitution by connective tissue and fat. The advances of an understanding of the molecular pathways affected in DMD have led to the development of many therapeutic strategies that tackle different aspects of disease etiopathogenesis, which have recently led to the first successful approved orphan drugs for this condition. The therapeutic advances in this field have progressed exponentially, with second-generation drugs now entering in clinical trials as gene therapy, potentially providing a further effective approach to the condition. View Full-Text
Keywords: Duchenne muscular dystrophy; dystrophin restoration; antisense oligonucleotide chemistry; exon-skipping; stop codon reversion; gene therapy; innovative clinical trials Duchenne muscular dystrophy; dystrophin restoration; antisense oligonucleotide chemistry; exon-skipping; stop codon reversion; gene therapy; innovative clinical trials
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MDPI and ACS Style

Fortunato, F.; Rossi, R.; Falzarano, M.S.; Ferlini, A. Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. J. Clin. Med. 2021, 10, 820. https://doi.org/10.3390/jcm10040820

AMA Style

Fortunato F, Rossi R, Falzarano MS, Ferlini A. Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. Journal of Clinical Medicine. 2021; 10(4):820. https://doi.org/10.3390/jcm10040820

Chicago/Turabian Style

Fortunato, Fernanda, Rachele Rossi, Maria S. Falzarano, and Alessandra Ferlini. 2021. "Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy" Journal of Clinical Medicine 10, no. 4: 820. https://doi.org/10.3390/jcm10040820

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