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'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'.

Acta neurologica Belgica - 1 Dec 2024

Rathore Abhishek, Arunachal Gautham, Mahale Rohan R, Padmanabha Hansashree, Mailankody Pooja

Abstract excerpt

We present two cases of a 23-years and 32-years old female respectively, who presented with recurrent seizures, ataxia, dysarthria, psychomotor slowing. Magnetic resonance imaging (MRI) of the brain in the first patient revealed T2/FLAIR hyperintensity in the bilateral thalamus and cerebellar white matter with diffusion restriction, with no contrast enhancement. In the second patient, magnetic resonance imaging...

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PMID: 39342053
DOI: 10.1007/s13760-024-02640-8

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