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Journal article

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

Abstract:

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 described in controls. This report further confirms the frequent association ...

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Publication status:
Published

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Publisher copy:
10.1016/j.jns.2004.07.007

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Journal:
Journal of the neurological sciences
Volume:
225
Issue:
1-2
Pages:
99-103
Publication date:
2004-10-05
DOI:
EISSN:
1878-5883
ISSN:
0022-510X
URN:
uuid:fac515c3-e942-4656-844b-d460daccfb2a
Source identifiers:
25764
Local pid:
pubs:25764

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