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

Authors: Childs, AM  Hutchin, T  Pysden, K  Highet, L  Bamford, J  Livingston, J  Crow, YJ 
Citation: Childs AM, etal., Neuropediatrics. 2007 Dec;38(6):313-6.
Pubmed: (View Article at PubMed) PMID:18461509
DOI: Full-text: DOI:10.1055/s-2008-1065355

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.


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RGD Object Information
RGD ID: 5490262
Created: 2011-09-12
Species: All species
Last Modified: 2011-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.