Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

doi:10.1093/brain/aws231

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Article

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Brain : a journal of neurology - 1 Nov 2012

Pitceathly Robert D S, Smith Conrad, Fratter Carl, Alston Charlotte L, He Langping, Craig Kate, Blakely Emma L, Evans Julie C, Taylor John, Shabbir Zarfishan, Deschauer Marcus, Pohl Ute, Roberts Mark E, Jackson Matthew C, Halfpenny Christopher A, Turnpenny Peter D, Lunt Peter W, Hanna Michael G, Schaefer Andrew M, McFarland Robert, Horvath Rita, Chinnery Patrick F, Turnbull Douglass M, Poulton Joanna, Taylor Robert W, Gorman Gráinne S

Abstract excerpt

Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] and PEO1 (now called C10ORF2, encoding the Twinkle helicase) mutations. However, the clinico-pathological and...

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Identifiers

PMID: 23107649
DOI: 10.1093/brain/aws231
PMCID: PMC3501970

Genes

POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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