TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
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ABSTRACT:
SUBMITTER: Ronchi D
PROVIDER: S-EPMC7419576 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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<i>TYMP</i> Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Ronchi Dario D Caporali Leonardo L Manenti Giulia Francesca GF Meneri Megi M Mohamed Susan S Bordoni Andreina A Tagliavini Francesca F Contin Manuela M Piga Daniela D Sciacco Monica M Saetti Cristina C Carelli Valerio V Comi Giacomo Pietro GP
Frontiers in genetics 20200805
Biallelic <i>TYMP</i> 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 <i>TYMP</i> defects in three subjects (5%), two of them with symptom onset in the fifth decade. One of the patients only displayed pto ...[more]
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