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Article

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Journal of medical genetics - 1 Sept 2011

Pitceathly Robert D S, Fassone Elisa, Taanman Jan-Willem, Sadowski Michael, Fratter Carl, Mudanohwo Ese E, Woodward Cathy E, Sweeney Mary G, Holton Janice L, Hanna Michael G, Rahman Shamima

Abstract excerpt

BACKGROUND: Mutations in RRM2B encoding ribonucleotide reductase (RNR) p53R2 subunit usually cause paediatric-onset mitochondrial disease associated with mitochondrial DNA (mtDNA) depletion. The importance of RNR dysfunction in adult mitochondrial disease is unclear. OBJECTIVE: To report the RRM2B mutation frequency in adults with multiple mtDNA deletions and examine RNR assembly in a patient with Kearns-Sayre...

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Source

Identifiers

PMID: 21378381
DOI: 10.1136/jmg.2010.088328

Genes

POLG

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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