Molecular Basis and Translational Research in Genetic Myopathies
A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".
Deadline for manuscript submissions: 31 August 2024 | Viewed by 120
Special Issue Editors
Interests: neuromuscular disorders; muscle regeneration; myokines; skeletal muscle; muscle biology; muscle damage; muscle proteins
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Genetic myopathies are inherited disorders which primarily affect skeletal muscles. The mutations alter proteins that are critical for muscle structure and function, leading to muscle weakness, muscle wasting, and the impairment of voluntary movements that can lead to wheelchair dependence or even death. These diseases constitute a heterogeneous group comprising a wide range of disorders, including muscular dystrophies, congenital myopathies, metabolic myopathies, etc. The severity and progression of symptoms can vary widely, ranging from mild muscle weakness to severe disability. Translational research aims to identify potential therapeutic targets and develop novel treatment strategies. Gene therapy, for example, has shown promise in preclinical and clinical studies for certain genetic myopathies.
Our goal for this Special Issue is to highlight new discoveries regarding the cellular and molecular targets in genetic myopathies for new therapeutic approaches to stop disease progression and improve patient quality of life.
Biomedicines invites authors to contribute original research and review articles.
Topics that could be considered include, but are not limited to:
- Molecular basis of genetic myopathies;
- Muscular dystrophies;
- Congenital myopathies;
- Metabolic myopathies;
- Mitochondrial myopathies;
- Inflammatory myopathies with a genetic basis;
- Genetic myopathy pathogenesis;
- Specific therapeutic approaches;
- Preclinical studies regarding genetic myopathies;
- Clinical studies/clinical trials on genetic myopathies.
Dr. Emilia Manole
Dr. Gisela Gaina
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. Biomedicines 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 2600 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
- genetic myopathy
- molecular basis
- theranostic approaches
- translational research
- proteomics
- genomics
- epigenetic biomarkers
- therapeutic strategies
