Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant
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DOI: 10.1212/wnl.0000000000011374
Abstract: A 40-year-old woman and her 38-year-old brother developed since childhood optic neuropathy, absence epilepsy, cognitive disability, cerebellar syndrome, hypertrophic cardiomyopathy, and scoliokyphosis, due to a mitochondriopathy associating MTO1 mutation and an MT-FT variant, both genes… read more here.
Keywords: bilateral high; mutation variant; high signal; signal intensity ... See more keywords