Molecular Insights and Therapeutic Innovations in Neuromuscular Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 30 April 2026
Special Issue Editor
Interests: neuromuscular disorders; Duchenne muscular dystrophy; myotonic dystrophy; collagen 6-related myopathies; nucleic acid therapeutics
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neuromuscular disorders represent a malicious, diverse, and predominantly genetic group of diseases that affect the neuromuscular system. These include both congenital and acquired conditions, with onset ranging from the neonatal period to adulthood. While many of these disorders lead to progressive muscle weakness and atrophy, others—particularly congenital and early onset forms—may present with distinct features that are equally critical to understanding neuromuscular pathophysiology. Over the recent decades, remarkable advances in molecular biology have deepened our understanding of these conditions, laying the foundation for the development of novel therapeutic strategies.
Today, therapeutic approaches are expanding beyond classical small molecules to include more targeted modalities, such as gene therapy, antisense oligonucleotides, RNA-based drugs (targeting pre-mRNA or microRNAs), and genome-editing tools. These new avenues are reshaping the treatment landscape and offer renewed hope for patients affected by these challenging conditions.
However, much work remains to be done. A comprehensive understanding of disease mechanisms is still lacking for many disorders, and the translation of promising molecular findings into effective therapies continues to face significant hurdles.
For this Special Issue, "Molecular Insights and Therapeutic Innovations in Neuromuscular Diseases," we invite original research and review articles that explore the molecular pathogenesis of and therapeutic strategies for neuromuscular disorders. We especially encourage the submissions of studies presenting unexpected or contradictory findings, as well as so-called "negative results." These findings, often underrepresented in conventional publications, are crucial to refining hypotheses, avoiding unnecessary duplication of effort, and advancing the field. In neuromuscular research—where patient populations are often small and disease models can be limited—rigorous studies that do not confirm expected outcomes are particularly valuable. They foster transparency, challenge prevailing assumptions, and inspire new avenues of investigation.
We look forward to your contributions and to building a robust collection of articles that will inform and inspire future research and clinical innovation in neuromuscular diseases.
Dr. Andrea López-Martínez (andrea.lopezmartinez@bio-bizkaia.eus) serves as a postdoctoral research associate and will assist Dr. Virginia Arechavala Gomeza in managing this Special Issue.
Dr. Virginia Arechavala-Gomeza
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
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Keywords
- neuromuscular disorders
- molecular mechanisms
- gene therapies
- RNA therapies
- small molecules
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