Original paper
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Abstract
Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state. SORD is an enzyme that converts sorbitol into fructose in the two-step polyol pathway previously implicated in...
Paper Details
Title
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Published Date
May 2, 2020
Journal
Volume
52
Issue
5
Pages
473 - 481