Pathophysiological Insights into Congenital Myasthenic Syndromes
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 30 April 2026 | Viewed by 42
Special Issue Editors
Interests: neuromuscular transmission; neuromuscular diseases; synapse biology; receptor and ion channel kinetics; enzyme kinetics; protein interaction; protein structure–function relationships
Interests: neuromuscular junction; mitochondrial homeostasis; RNA metabolism; data science and machine learning; parkinson’s disease; gut microbiota; electromagnetic field
Special Issue Information
Dear Colleagues,
Congenital myasthenic syndromes (CMSs) are a diverse group of inherited neuromuscular disorders caused by impaired neuromuscular transmission, resulting in fatigable muscle weakness. Advances in genetics, molecular biology, and neuropathology have greatly enhanced our understanding of CMSs, uncovering distinct pathogenic mechanisms involving presynaptic, synaptic, and postsynaptic defects. However, significant challenges remain in achieving timely and accurate diagnosis, establishing precise genotype–phenotype correlations, and identifying novel therapeutic targets.
This Special Issue of Biomolecules, entitled “Pathophysiological Insights into Congenital Myasthenic Syndromes”, will provide a platform for original research articles and comprehensive reviews that will advance our knowledge of the molecular and cellular basis of CMSs. We welcome the inclusion of research based on case descriptions of CMSs of known or undefined etiology, including cases occurring in combination with other disorders, as they provide valuable insights into novel phenotype–genotype relationships, mechanistic understanding, translational applications, and potential treatment improvements, thereby further enriching the manuscript. Studies addressing structural, functional, or biochemical alterations to neuromuscular junction components, novel gene variants and their pathogenicity, disease modeling, and the mechanisms behind synaptic dysfunction are highly encouraged.
By bridging molecular insights and clinical perspectives, this Special Issue will enhance our understanding of CMS pathophysiology and promote the development of improved diagnostic approaches and targeted therapeutic strategies.
We look forward to receiving your contributions to this Special Issue.
Dr. Xin-Ming Shen
Dr. Kinji Ohno
Dr. Duygu Selcen
Guest Editors
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. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). 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
- neuromuscular junction
- neurotransmission
- developmental biology
- myasthenia
- congenital myasthenic syndrome
- human genetics
- variant
- mutation
- animal model
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.
