The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

ABSTRACT: The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical, biochemical, electrophysiological, electrophysiological, and histopathological characterization is very helpful to achieve molecular diagnosis, which is essential for establishing prognosis, treatment and genetic counselling. Currently, the genetic approach includes both the gene-targeted analysis in specific clinically recognizable diseases, as well as genomic analysis based on next-generation sequencing, analyzing either the clinical exome/genome or the whole exome or genome. However, as of today, there are still many patients in whom the causative genetic variant cannot be definitely established and variants o

SUBMITTER: Yubero D 

PROVIDER: S-EPMC8074304 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature