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Inherited neuromuscular disorders are difficult to diagnose using traditional biopsies because many of them do not have distinctive histopathological features. In the last decade, the evolution of next-generation sequencing (NGS) technologies has drastically improved the diagnostic yield and how clinicians ...

Inherited neuromuscular disorders are difficult to diagnose using traditional biopsies because many of them do not have distinctive histopathological features. In the last decade, the evolution of next-generation sequencing (NGS) technologies has drastically improved the diagnostic yield and how clinicians and pathologists approach neuromuscular disorders. Given the wide variety of NGS panels and report formats offered by different laboratories, there is an urgent need of data review to establish guidelines for integration of NGS data in clinical diagnostics.



Because of literature’s paucity, collecting up-to-date knowledge on this matter is of utmost relevance for advancing the field. We need a systemic approach to collect information that can make personalized genomic medicine more streamline and cost-effective. In addition, we hope that a better understanding of personalized genomic medicine will increase the utilization of molecular diagnostic tools and improve the diagnostic yield for neuromuscular disorders. The ultimate goal of personalized medicine is to translate the knowledge into development of targeted therapy for individual with neuromuscular disorders.

Topic Editors will welcome all types of manuscripts ranging from systemic literature reviews and large meta-analysis studies to small case series of rare disorders. We are particularly interested in multi-institutional and single-institutional experiences about using NGS as clinical diagnostic tools for neuromuscular disorders. Potential topics include but are not limited to:

- Comparison of diagnostic accuracy, sensitivity and specificity of different NGS-based gene panels for neuromuscular disorders

- How to approach variants of uncertain significance (VUS) in neuromuscular disorders

- Clinical relevance of genotype-phenotype correlations for a given neuromuscular disorder

- Institutional experience of using NGS-based gene panels for diagnosis of neuromuscular disorders

- Challenges, limitations and pitfalls of NGS in diagnosing neuromuscular disorders

- The utility of genetic testing in diagnosing rare neuromuscular disorders

- How to select appropriate genetic testing for certain neuromuscular disorders, e.g. mitochondrial myopathy

- Clinical practice guidance for NGS in diagnosis of neuromuscular disorders

Keywords: Myopathies, Neuromuscular Disorders, Genetic Testing, Diagnostic, NGS, Genotype-Phenotype correlation


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