Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Alice Decio Roberto Giorda Elena Panzeri Maria Teresa Bassi Maria Grazia D'Angelo

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

Keyphrases

late onset
copy number
early onset
circulating tumor cells