First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece.

Andriana CharalampopoulouDimitra VeltsistaStavros TaravirasElisabeth Chroni

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

Keyphrases

case report
copy number
genome wide
genome wide identification
genome wide analysis
transcription factor