LAUSR

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

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1 Published in 2020 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2020.00860

Abstract: 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… read more here.

Keywords: late onset; muscle; tymp; tymp variants ... See more keywords