Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.
Paulius PalaimaTeodora ChamovaSebastian JanderVanyo MitevChristine Van BroeckhovenIvailo TournevKristien PeetersAlbena JordanovaPublished in: Orphanet journal of rare diseases (2019)
We expand the genetic and phenotypic spectrum of PMP2-related peripheral neuropathy. Our findings reveal a second mutational cluster in the protein.