Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated

Josef Finsterer*

Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated

Josef Finsterer*

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Josef Finsterer*, “Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated”, ijmhs, vol. 10, no. 06, pp. 910–911, Jun. 2020.

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Abstract

Patients carrying the m.616T>C variant in MT-TF may not only manifest with cerebral
disease and mitochondrial tubule-interstitial kidney disease (MITKD), but also
with phenotypic manifestation sin other organs if systematically looked for. Focal
epilepsy in MITKD may be a clinical manifestation of a stroke-like lesion (SLL). If
anti-seizures drugs (ASDs) fail to stop seizure activity in these patient, the ketogenic
diet should be tried. Patients with a mitochondrial disorder affecting the respiratory
chain may profit from the additional application of antioxidants and cofactors.
Key words: mtDNA–heteroplasmy–renal failure–MT-TF

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Innovative Journal of Medical and Health Science

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[1]

Josef Finsterer*, “Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated”, ijmhs, vol. 10, no. 06, pp. 910–911, Jun. 2020.

Issue Vol. 10 No. 06 (2020): Innovative Journal of Medical and Health Science
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Innovative Journal of Medical and Health Sciences

Phenotypic manifestations of the m.616T>C variant in MT-TF may be more diverse than anticipated

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