Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Isabella HermanMichael A LopezDana MarafiDavut PehlivanDaniel G CalameFarida AbidTimothy E LotzePublished in: Muscle & nerve (2020)
Due to NGS, molecular diagnostic yield of rare neurological diseases is at an all-time high. We show that ES has a higher diagnostic rate compared to other genetic tests in a complex pediatric neuromuscular disease cohort and should be considered early in the diagnostic journey for select NMD patients with challenging presentations in which a clinical diagnosis is not evident.