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Advances in the Genetics, Epidemiology and Management of Myopathies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 30 August 2025 | Viewed by 520

Special Issue Editors


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Guest Editor

Special Issue Information

Dear Colleagues,

Myopathies are a group of muscle disorders characterized clinically by muscle weakness, premature fatigue and muscle pain (myalgia). Although various candidate genes have been associated with the various phenotypic and histological expressions of myopathies, the unexpectedly wide epidemiological genetic and clinical heterogeneity of these disorders calls for more extensive research on the genetic factors that influence their pathogenesis. Moreover, research concerning advancements in the epidemiology and management of myopathies have elucidated the unmet need for further research on these topics. This Special Issue therefore aims to collect studies that address the role of genetic factors in the pathogenesis of myopathies, as well as those that address epidemiology and recent advancements in the treatment of myopathies. Since IJMS is a journal of molecular science, we will not accept the submission of purely clinical studies, but clinical submissions that present biomolecular experiments are welcome.

Dr. Efthimios Dardiotis
Dr. Vasileios Siokas
Guest Editors

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Keywords

  • myopathies
  • muscle disorders
  • muscle weakness
  • muscle pain
  • myalgia

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Published Papers (1 paper)

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Review

22 pages, 1159 KiB  
Review
Advances in Management of Mitochondrial Myopathies
by Athanasios Bangeas, Vasiliki Poulidou, Ioannis Liampas, Chrysa Marogianni, Athina-Maria Aloizou, Zisis Tsouris, Markos Sgantzos, Marianthi Arnaoutoglou, Dimitrios P. Bogdanos, Efthimios Dardiotis and Vasileios Siokas
Int. J. Mol. Sci. 2025, 26(11), 5411; https://doi.org/10.3390/ijms26115411 - 5 Jun 2025
Viewed by 369
Abstract
Mitochondria, the energy factories of human organisms, can be the cause of a variety of genetic disorders called mitochondrial myopathies. Mitochondrial diseases arise from genetic alterations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) and can manifest with great heterogeneity, leading to [...] Read more.
Mitochondria, the energy factories of human organisms, can be the cause of a variety of genetic disorders called mitochondrial myopathies. Mitochondrial diseases arise from genetic alterations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) and can manifest with great heterogeneity, leading to multiorgan dysfunction. The purpose of this article is to concisely review the pathophysiology, genetics and main clinical features of mitochondrial myopathies, focusing mainly on the treatment and management of these disorders. Currently, a particular treatment for mitochondrial myopathies does not exist, while the available guidelines concerning management are based on experts’ opinions. The therapeutic options currently applied largely aim at symptom relief and amelioration of patients’ quality of life. The most commonly used regimens involve the administration of vitamins and cofactors, although hard evidence regarding their true benefit for patients is still lacking. Recent studies have demonstrated promising results for elamipretide; however, phase III clinical trials are still ongoing. Regarding patient management, a multidisciplinary approach with the collaboration of different specialties is required. Further clinical trials for the already applied treatment options, as well as on novel experimental therapies, are of utmost importance in order to improve patients’ outcomes. Full article
(This article belongs to the Special Issue Advances in the Genetics, Epidemiology and Management of Myopathies)
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