Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Ivana Babić BožovićAleš MaverLea LeonardisMarija MeznaricDamjan OsredkarBorut Peterlin

Published in: PloS one (2021)

Our results provide evidence that phenotype driven exome analysis diagnostic approach facilitates the diagnostic rate of complex, heterogeneous disorders, such as myopathies, particularly in paediatric patients and patients with unspecified myopathies.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
emergency department
copy number
intensive care unit
prognostic factors
single cell
gene expression
data analysis