Myotonic Dystrophies: An Update on Pathology, Molecular Pathogenesis and Therapeutic Approaches
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: 30 December 2024 | Viewed by 221
Special Issue Editor
Interests: genetic diseases with unstable expansions; RNA-binding proteins; molecular biology and biochemistry
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Myotonic dystrophies (DM) type 1 and type 2 are complex genetic diseases affecting many tissues, including the skeletal muscles, heart, and brain. DM1 and DM2 are caused by unstable expansions of CTG (DM1) and CCTG (DM2) repeats. Both diseases do not have a cure. Molecular studies of DM have identified the major mechanisms of these disorders, which are associated with the toxic effects of mutant RNAs containing long CUG and CCUG repeats. However, the mutant RNAs in DM1 and DM2 might affect additional intracellular pathways, thereby increasing the complexity of molecular pathogenesis. This Special Issue will summarize current findings regarding the molecular mechanisms of DM1 and DM2, and will discuss how these advances can be used for the development of clinical studies on DM1 and DM2.
Prof. Dr. Lubov Timchenko
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
- myotonic dystrophies
- DM1
- DM2
