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Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Childs A, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ

Neuropediatrics. 2007;38( 6):313-6.

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Abstract

We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.

Bibliographic metadata

Type of resource:
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Published date:
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Place of publication:
Germany
Volume:
38( 6)
Start page:
313
End page:
6
Pagination:
313-6
Digital Object Identifier:
10.1055/s-2008-1065355
Access state:
Active

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Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d18552
Created:
30th August, 2009, 14:54:16
Last modified:
3rd March, 2010, 18:54:51

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