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Genetic therapies for inherited neuromuscular disorders

Scoto, M; Finkel, R; Mercuri, E; Muntoni, F; (2018) Genetic therapies for inherited neuromuscular disorders. The Lancet Child & Adolescent Health , 2 (8) pp. 600-609. 10.1016/S2352-4642(18)30140-8. Green open access

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Abstract

Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes has enabled more precise diagnosis of these disorders and the development of specific therapeutic approaches that target the genetic basis and pathophysiological pathways. Such translational research has led to the approval of two genetic therapies by the US Food and Drug Administration: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy, which are both antisense oligonucleotides that modify pre-mRNA splicing. In this Review we aim to discuss new genetic therapies and ongoing clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, and other less common childhood neuromuscular disorders.

Type: Article
Title: Genetic therapies for inherited neuromuscular disorders
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/S2352-4642(18)30140-8
Publisher version: http://dx.doi.org/10.1016/S2352-4642(18)30140-8
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10055445
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