Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-230013
Abstract: BACKGROUND Whole-exome sequencing (WES) facilitates the diagnosis of hereditary neuromuscular disorders. To achieve an accurate diagnosis, physicians should interpret the genetic report carefully along with clinical information and examinations. We described our experience with (1)… read more here.
Keywords: negative findings; findings wes; neuromuscular disorders; whole exome ... See more keywords