Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

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) clinical validation in patients with variants found using WES and (2) a diagnostic approach for those with negative findings from WES.

Methods

WES was performed on patients with the clinical impression of hereditary neuromuscular disorders. Information on clinical manifestations, neurological examination, electrodiagnostic studies, histopathology of muscle and nerve, and laboratory tests were collected.

Results

Forty-one patients (Male/Female: 18/23, age of onset: 34.5±15.9) accepted WES an

SUBMITTER: Chen PS 

PROVIDER: S-EPMC10357215 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature