POG01 Anti-thymidine phosphorylase antibodies in the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy

Abstract

BackgroundMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive condition, characterised by peripheral neuropathy, gastrointestinal dysmotility, asymptomatic cerebral white matter lesions and mitochondrial myopathy, and caused by mutations in the gene...