Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

doi:10.1093/brain/awl088

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Article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Brain : a journal of neurology - 1 Jul 2006

Horvath Rita, Hudson Gavin, Ferrari Gianfrancesco, Fütterer Nancy, Ahola Sofia, Lamantea Eleonora, Prokisch Holger, Lochmüller Hanns, McFarland Robert, Ramesh V, Klopstock Thomas, Freisinger Peter, Salvi Fabrizio, Mayr Johannes A, Santer Rene, Tesarova Marketa, Zeman Jiri, Udd Bjarne, Taylor Robert W, Turnbull Douglass, Hanna Michael, Fialho Doreen, Suomalainen Anu, Zeviani Massimo, Chinnery Patrick F

Abstract excerpt

Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase gamma (POLG1) have recently been described in patients with diverse clinical presentations, revealing a complex relationship between genotype and phenotype in patients and their families. POLG1 was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and...

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PMID: 16621917
DOI: 10.1093/brain/awl088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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