Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.

doi:10.1016/j.mito.2021.04.010

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Article

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.

Mitochondrion - 1 Jul 2021

Saneto Russell P, Patrick Kristina E, Perez Francisco A

Abstract excerpt

Leigh syndrome is a progressive neurodegenerative syndrome caused by multiple mitochondrial DNA and nuclear DNA pathological variants. Patients with Leigh syndrome consistently have distinct brain lesions found on MRI scanning involving abnormal signal in the basal ganglia, brainstem and/or cerebellum. Other clinical findings vary depending on the genetic etiology and epigenetic factors. Mitochondrial DNA-derived...

Topics

Adolescent
Ataxia
Brain
Female
Heteroplasmy
Humans
Leigh Disease
Magnetic Resonance Imaging
Phenotype
Polymorphism, Single Nucleotide
Retina

Source

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Identifiers

PMID: 33894360
DOI: 10.1016/j.mito.2021.04.010
PMCID: PMC8292191

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