Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2 .
Lea LeonardisMarusa Skrjanec PusenjakAles MaverHelena JaklicAna Ozura BreckoBlaz KoritnikBorut PeterlinKarin WritzlPublished in: Neurology. Genetics (2022)
-related disorder.