A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Macarena Cabrera-SerranoDavid Joseph CooteDimitar AzmanovHayley GoulleeErik AndersenCatriona McLeanMark DavisRyosuke IshimuraZornitza StarkJean-Michel VallatMasaaki KomatsuAndrew KornbergMonique RyanNigel G LaingGianina RavenscroftPublished in: Journal of medical genetics (2020)
This report expands the phenotypical spectrum of UBA5 mutations to include fatal peripheral neuropathy.
Keyphrases