A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

Eran Cohen-BarakNada Danial-FarranElana ChervinskyOla Alimi-KasemFadia ZagairyIdo LivnehBannan MawassiMaysa HreishMorad KhayatAlexander LossosVardiella MeinerNina EhilevitchKarin WeissStavit Shalev

Published in: Journal of medical genetics (2022)

Reduced level of CHMP3 is associated with complex spastic paraplegia phenotype, through aberrant autophagy mechanisms.

Keyphrases

cerebral palsy
botulinum toxin
cell death
upper limb
endoplasmic reticulum stress