Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service is a scholarly work by Sophelia H S Chan, Bitten Schönewolf-Greulich, Bas C Stunnenberg, Baziel van Engelen, Erik-Jan Kamsteeg, and Nicol Voermans, published in 2019 in ''Journal of neuromuscular diseases''. The main subjects of the publication include biology, spinal muscular atrophy, medicine, human genetics, disease, exome sequencing, hypertrophic cardiomyopathy, genetics, genetic heterogeneity, genetic testing, bioinformatics, exome, population, phenotype, gene, and neuromuscular disease. Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous.