Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000658
Abstract: Background and Objectives To expand the phenotype and genotype associated with PCYT2-related disorder. Methods Exome sequencing data from a patient with molecularly undiagnosed complex spastic paraplegia and axonal motor and sensory polyneuropathy were analyzed. Clinical… read more here.
Keywords: homozygous missense; related disorder; variant; pcyt2 related ... See more keywords