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Article

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PloS one - 1 Jan 2016

Rajakulendran Sanjeev, Pitceathly Robert D S, Taanman Jan-Willem, Costello Harry, Sweeney Mary G, Woodward Cathy E, Jaunmuktane Zane, Holton Janice L, Jacques Thomas S, Harding Brian N, Fratter Carl, Hanna Michael G, Rahman Shamima

Abstract excerpt

Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in such clinical diversity remains unclear. In this study we evaluate the clinical, neuropathological and mitochondrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26735972
DOI: 10.1371/journal.pone.0145500
PMCID: PMC4703200

Genes

POLG

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