Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders

HIGHLIGHTS

• What: The authors aimed to: Neurogenetics 25:233-247 assess the diagnostic utility of a custom-designed 89 gene panel; and_(2) describe unexpected findings in selected patients with clinical features of NMDs. In this study, its intronic variant was presented both in NMD patients (n=4) and in the control group (n=5), reaching an estimated frequency of 7.7% and 2.9%, respectively. The authors aim to note that both variants of the CAPN3 gene: c.319G > A and deletion of exons 2-8 may together be responsible for the patient`s clinical signs. During . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.