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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.

Isabella HermanMichael A LopezDana MarafiDavut PehlivanDaniel G CalameFarida AbidTimothy E Lotze
Published 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.
Keyphrases
  • single cell
  • gene expression
  • blood brain barrier