A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

Mattia ParisiAntonio CanosaAlessandra TessaBruno FerreroSalvatore Gallone

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)

Keyphrases

early onset
copy number
genome wide
genome wide identification
case report
gene expression
transcription factor