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Advances in the Genetics, Epidemiology and Management of Myopathies
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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) belonging to the section "Molecular Biology".

Deadline for manuscript submissions: closed (20 September 2026) | Viewed by 14049

Editors

Dr. Efthimios Dardiotis

E-Mail Website
Guest Editor
1. Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, 41110 Larissa, Greece
2. School of Medicine, University of Thessaly, 41110 Larissa, Greece
Interests: neurosciences; neurology; neurogenetics; molecular neurology; cognitive impairment; neurorehabilitation
Special Issues, Collections and Topics in MDPI journals
Dr. Vasileios Siokas

E-Mail Website
Guest Editor
1. Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, 41110 Larissa, Greece
2. School of Medicine, University of Thessaly, 41110 Larissa, Greece
Interests: neurosciences; neurology; neurogenetics; molecular neurology; neurodegeneration; neurorehabilitation
Special Issues, Collections and Topics in MDPI journals

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

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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized 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

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

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Published Papers (2 papers)

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Research

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9 pages, 1016 KB  
Article
Risk Factors Associated with the Development of Thrombotic Microangiopathy in Patients with Dermatomyositis
by Fabiola Cassiano-Quezada, Daniel Alberto Carrillo-Vázquez, Jiram Torres-Ruiz, Nancy Raquel Mejía-Domínguez, Karina Santana-de Anda, Ericka Abigail Guevara-Rojas and Diana Gómez-Martín
Int. J. Mol. Sci. 2026, 27(1), 315; https://doi.org/10.3390/ijms27010315 - 27 Dec 2025
Cited by 1 | Viewed by 1814
Abstract
Thrombotic microangiopathy (TMA) is an infrequent and poorly understood manifestation in dermatomyositis (DM) associated with poor outcomes and refractoriness to treatment. The aim of this study is to describe the clinical characteristics and risk factors for its development. We conducted a nested case–control [...] Read more.
Thrombotic microangiopathy (TMA) is an infrequent and poorly understood manifestation in dermatomyositis (DM) associated with poor outcomes and refractoriness to treatment. The aim of this study is to describe the clinical characteristics and risk factors for its development. We conducted a nested case–control study comparing patients with DM who developed TMA to those with DM without this complication. Disease activity was evaluated using the Myositis Disease Activity Assessment Tool (MDAAT), the Manual Muscle Test of eight muscle groups (MMT8), and muscle enzyme levels. A binomial logistic regression analysis was performed to identify risk factors for the development of TMA among patients with DM. All patients with TMA had DM. Patients with DM/TMA had a shorter time since disease onset (p = 0.033), lower levels of C3 (p = 0.07) and C4 (p = 0.046), as well as higher leukocyte (p = 0.044), neutrophil (p = 0.033), and creatine phosphokinase (CK) levels (p = 0.005). They also exhibited higher constitutional (p = 0.0008), pulmonary (p = 0.008), and muscle disease activity (p = 0.027). In the univariate analysis, a shorter time since disease onset (OR 0.42, p = 0.0042) indicated an increased risk for TMA, as did low complement levels (C3: OR 1.11, p = 0.01; C4: OR 1.18, p = 0.02) and higher constitutional (OR 2.27, p = 0.0014), pulmonary (OR 5.50, p = 0.0004), and muscle disease activity (OR 2.1, p = 0.003). Although elevated CK levels (OR 1.001, p = 0.0008) reached statistical significance, the effect size was minimal and should not be interpreted as a clinically relevant increase in risk. Confocal microscopy of muscle biopsy specimens demonstrated neutrophil extracellular traps (NETs) infiltrating muscle tissue. Patients with DM who develop TMA appear to exhibit a distinct clinical phenotype characterized by leukocytosis, neutrophilia, hypocomplementemia, shorter disease duration, and greater constitutional, pulmonary, and muscular disease activity. Although limited by the small sample size, these findings suggest a potential role of NETs in microvascular and tissue injury associated with DM-related TMA. Larger studies are warranted to validate these observations and further elucidate the underlying pathogenic mechanisms. Full article
(This article belongs to the Special Issue Advances in the Genetics, Epidemiology and Management of Myopathies)
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Review

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22 pages, 1159 KB  
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
Cited by 6 | Viewed by 11379
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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