Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequencing in a cohort of 60 patients featuring muscle accumulation of mitochondrial DNA (mtDNA) deletions detected TYMP defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed ptosis and ophthalmoparesis. Biochemical and molecular studies supported the diagnosis. Screening of TYMP is recommended in adult patients with muscle mtDNA instability, even in the absence of cardinal MNGIE features. © Copyright © 2020 Ronchi, Caporali, Manenti, Meneri, Mohamed, Bordoni, Tagliavini, Contin, Piga, Sciacco, Saetti, Carelli and Comi.
- mitochondrial DNA instability
- mitochondrial DNA replication
- mitochondrial myopathy
- mitochondrial neurogatrointestinal encephalomyopathy