Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (31 October 2020) | Viewed by 93088
Special Issue Editors
2. Ikerbasque, Basque Foundation for Science, Bilbao, Spain
Interests: antisense oligonucleotides; duchenne muscular dystrophy; myotonic dystrophy; outcome measures; dystrophin quantification
Special Issue Information
Dear Colleagues,
We would like to invite you to participate in this Special Issue, “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”.
More than 500 different disorders are included under the definition of neuromuscular disorders, and most of them are inherited diseases. In addition, these entities present a high clinical and genetic heterogeneity; in many cases, mutations in a single gene may be the cause of one or more neuromuscular disorders, while some disorders can be attributed to mutations in several genes. An ongoing revolution in diagnostic techniques has identified a large number of causative genes in the last two decades, and treatments are now being developed against these new targets.
The purpose of this Special Issue is to host research and review papers on our molecular understanding of neuromuscular disorders and associated genetic therapies. New results, confirmatory results, and contradictory results will also be considered for publication.
Prof. Virginia Arechavala-Gomeza
Dr. Lidia Gonzalez-Quereda
Guest Editors
Manuscript Submission Information
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Keywords
- Neuromuscular disorders
- Gene therapy
- Gene edition
- RNA Therapies
- Antisense oligonucleotides
- Splicing
- Massive Parallel Sequencing
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