Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Abstract excerpt

We describe a young girl with a novel 1659T>C mutation in the tRNA(Val) gene of mitochondrial DNA (mtDNA) who presented with learning difficulties, hemiplegia, and a movement disorder, together with a raised cerebrospinal fluid (CSF) lactate. The mutation, which was present at high levels of heteroplasmy in patient tissues, interrupts a conserved Watson-Crick basepair in the TPsiC stem and has not previously been...

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