Special Issue "Diagnosis, Pathomechanisms, Treatment and Management of Myotonic Dystrophy"
Deadline for manuscript submissions: 1 December 2021.
Interests: neuromuscular diseases; skeletal muscle physiology; skeletal muscle fibers; muscle proteins; genetics; transcriptomics; molecular treatments
The available knowledge on Myotonic Dystrophy type I (DM1) increases every day. However, the complex mechanisms that are involved in this rare disease are still under investigation. The primary cause is clear, a genetic expansion in the 3’ UTR region of DMPK gene, in which a CTG repeat is found over 50 times in DM1 patients. From there, the pathomechanisms that have been studied, which are triggered by this genetic expansion, are extremely diverse: nuclear accumulation of expanded DMPK transcripts, entrapment of proteins, splicing alterations, changes in methylation, and altered expression of the genes surrounding the DMPK gene, among others. In the clinical side the scenario is also complex, with heterogeneous symptomatic manifestation and only symptomatic treatment available. Therefore, we invite other research colleagues to contribute to this special issue that aims to keep moving forward in the research for DM1.
Dr. Gisela Nogales-Gadea
Dr. Mònica Suelves
Manuscript Submission Information
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