MR imaging and proton MR spectroscopy in A-to-G substitution at nucleotide position 3243 of leucine transfer RNA.

Abstract excerpt

MR imaging of the brain in a 38-year-old woman with maternally inherited diabetes and deafness (MIDD) showed extensive subcortical and basal ganglia high signal intensity on T2-weighted studies though she was neurologically asymptomatic. High-signal-intensity changes were also seen in the basal ganglia on T1-weighted studies. Proton MR spectroscopy showed increased lactate, an increased choline/creatine ratio,...

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