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Phenotypic and genotype spectrum of POLG-related mitochondrial Disorders
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The POLG gene is crucial for making an enzyme that helps copy and fix the DNA in our cells' energy factories, called mitochondria. When this gene has harmful changes, it can cause a group of genetic diseases that affects mitochondria called POLG-related diseases. These diseases often present in children but can present in adulthood too. The symptoms can vary widely, including problems with muscles, nerves, liver, and the brain. We aim to study the genetic and health data in the 100,000 Genomes (100kGP) project and Genetic Medicine Services (GMS) Rare Disease cohorts to identify POLG gene changes that could be of potential diagnostic value and to better understand how different POLG gene changes relate to various health problems and improve diagnosis.
