Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Genetics of Neuromuscular and Metabolic Diseases
share announcement

Genetics of Neuromuscular and Metabolic Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 5 December 2025 | Viewed by 393

Special Issue Editors

Prof. Dr. Micheal Palladino

E-Mail Website
Guest Editor
Department of Pharmacology & Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15260, USA
Interests: metabolism; glycolysis; mitochondira; genetics; genetic models; biochemistry; therapy development; neuromuscular function and neurogenetics
Special Issues, Collections and Topics in MDPI journals
Dr. Claudia Ricci

E-Mail Website
Guest Editor
Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy
Interests: neurogenetics; motor neuron diseases; Amyotrophic Lateral Sclerosis; cerebral cavernous malformations; genotype-phenotype correlations; gene variant consequences; micrornas
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic diseases that affect neuromuscular function and/or metabolism are especially heinous. They can develop at any stage of life, with many people having early pediatric onset diseases. Many of these diseases are rare and ultra-rare, are understudied, and currently lack treatments, leading to a terrible prognosis. In this Special Issue we welcome both review articles and original research related to neuromuscular and metabolic genetic diseases. This Special Issue will focus on the genetic studies of such diseases and multidisciplinary approaches being used in their genetic models. We aim for this edition to emphasize a variety of genetic and omic approaches that will expand our basic knowledge in these areas, as well as translational research elucidating mechanisms of disease, identifying therapeutic targets, or advancing new therapies. Example topics include, but are not limited to, the following: neurogenetics research, mitochondrial or glycolytic diseases, genetic and omics studies of metabolic and neuromuscular disease, rare disease model development, mechanistic studies of rare/ultra-rare genetic diseases, studies of neurologic and neuromuscular diseases, and gene and genetic therapy development for rare diseases. We look forward to your contribution.

Prof. Dr. Micheal Palladino
Dr. Claudia Ricci
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. Genes 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

  • neurogenetics
  • metabolism
  • genetic models
  • biochemistry
  • therapy development
  • rare and ultra-rare genetic diseases

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

13 pages, 1323 KiB  
Article
Genotypic and Phenotypic Characterization of Axonal Charcot–Marie–Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations
by Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan, Erman Altunışık, Akçahan Akalın, Mahmut Yaman, Alper Akın and Sefer Kumandaş
Genes 2025, 16(8), 917; https://doi.org/10.3390/genes16080917 - 30 Jul 2025
Viewed by 296
Abstract
Background: Charcot–Marie–Tooth disease (CMT) is a genetically and phenotypically heterogeneous hereditary neuropathy. Axonal CMT type 2 (CMT2) subtypes often exhibit overlapping clinical features, which makes molecular genetic analysis essential for accurate diagnosis and subtype differentiation. Methods: This retrospective study included five pediatric patients [...] Read more.
Background: Charcot–Marie–Tooth disease (CMT) is a genetically and phenotypically heterogeneous hereditary neuropathy. Axonal CMT type 2 (CMT2) subtypes often exhibit overlapping clinical features, which makes molecular genetic analysis essential for accurate diagnosis and subtype differentiation. Methods: This retrospective study included five pediatric patients who presented with gait disturbance, muscle weakness, and foot deformities and were subsequently diagnosed with axonal forms of CMT. Clinical data, electrophysiological studies, neuroimaging, and genetic analyses were evaluated. Whole exome sequencing (WES) was performed in three sporadic cases, while targeted CMT gene panel testing was used for two siblings. Variants were interpreted using ACMG guidelines, supported by public databases (ClinVar, HGMD, and VarSome), and confirmed by Sanger sequencing when available. Results: All had absent deep tendon reflexes and distal muscle weakness; three had intellectual disability. One patient was found to carry a novel homozygous frameshift variant (c.2568_2569del) in the IGHMBP2 gene, consistent with CMT2S. Other variants were identified in the NEFH (CMT2CC), DYNC1H1 (CMT2O), and MPV17 (CMT2EE) genes. Notably, a previously unreported co-occurrence of MPV17 mutation and congenital heart disease was observed in one case. Conclusions: This study expands the clinical and genetic spectrum of pediatric axonal CMT and highlights the role of early physical examination and molecular diagnostics in detecting rare variants. Identification of a novel IGHMBP2 variant and unique phenotypic associations provides new insights for future genotype–phenotype correlation studies. Full article
(This article belongs to the Special Issue Genetics of Neuromuscular and Metabolic Diseases)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-1
Back to TopTop