https://www.selleckchem.com/pr....oducts/crt0066101-di
We conducted a molecular analysis in our patient due to his Parkinsonism and recurrent episodes of encephalopathy. E1143G mutation found in our case was coincidental and reported a non-pathogenic or benign variant in literature. E1143G is a non-pathogenic variant and multiple studies have shown that its co-occurrence with other POLG mutations can aggravate disease occurrence and severity. Literature findings and the experience from our own case indicate that the pathogenicity of E1143G is debatable, and future studies
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