Pathophysiology and Treatment of Congenital Neuromuscular Disorders
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 20 January 2026 | Viewed by 1824
Special Issue Editor
Interests: nebulin; titin; nemaline myopathy; titinopathy; HMERF; congenital myopathies; sarcomere dynamics; regulation of muscle contraction; myofilament
Special Issue Information
Dear Colleagues,
Over the last few decades, we have made great progress in identifying the genetic cause of congenital neuromuscular disorders. We have also started to understand how some of these mutations result in muscle weakness through their disruption of the physiological neuromuscular system, but much more work remains to be carried out. Furthermore, there are currently no approved therapies targeting the underlying pathological processes that result in muscle weakness and/or muscle smallness in these diseases. This unmet need represents a considerable burden for patients and their families.
With these issues in mind, we are excited to announce a Special Issue of the International Journal of Molecular Science (IJMS) entitled “Pathophysiology and Treatment of Congenital Neuromuscular Disorders”, which will focus on the molecular mechanisms that contribute to the disease phenotype and new innovative therapeutic approaches for congenital neuromuscular disorders. Since IJMS is a journal of molecular science, pure clinical or model studies will not be suitable for our journal. However, clinical or pure model submissions with biomolecular experiments are welcomed.
Dr. Johan Lindqvist
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.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- nemaline myopathy
- hereditary neuromuscular disorder
- genetic mutations
- pathogenesis
- pathophysiology
- therapy
- myofilament dysfunction
- congenital neuromuscular disorders
- congenital muscular dystrophy
- spinal muscular atrophy
- Duchenne muscular dystrophy
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
