Genetics of Neuromuscular Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 10 September 2026 | Viewed by 34
Special Issue Editor
2. Henry M Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA
Interests: molecular genetics of muscle disorders, specifcally triggarable muscle disorders, inlcuding malignant hyperthermia; exertional rahdbomyolysis and exercise intolerance
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neuromuscular disorders (NMDs) represent a broad group of clinically heterogeneous diseases that primarily affect the function of muscle and the nerves controlling them. Most NMDs are genetic disorders of skeletal muscle, motor neurons, peripheral nerves and neuromuscular junctions.Next-generation sequencing revolutionized the diagnosis of NMDs and uncovering hundreds of genes and genetic variants underlying them. The latest version of the online Gene Table of NMDs includes more than 600 genes associated with NMDs. Despite these advances, understanding the pathogenic mechanisms of NMDs, studies of animal and cell culture models of these disorders, and functional studies defining variant pathogenicity and uncovering genetic factors contributing to variable expression of NMDs remain limited. Furthermore, the genetics of NMDs from ethnically diverse populations under-represented in biomedical studies have not been adequately addressed in the field.
In this Special Issue we aim to provide detailed and updated research on the genetics and molecular mechanisms underlying NMDS. Topics include, but are not limited to, the genetic basis of NMDS, identification and characterization of disease-causing variants, structural variations, genetic factors modifying disease expression, cohort studies, and case series on genetics of NMDs from ethnically diverse populations and populations from Central and South East Asia, South America and Africa. We are also interested in studies in animal, cell culture models of NMDs and functional studies confirming the pathogenicity of disease- causing variants.
Dr. Nyamkhishig Sambuughin
Guest Editor
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Keywords
- hereditary neuromuscular disorders
- functional studies
- disease mechanisms
- variant pathogenicity
- animal and cell culture model of neuromuscular disorders
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