POLRMT mutations impair mitochondrial transcription causing neurological disease.

doi:10.1038/s41467-021-21279-0

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Article

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Nature communications - 18 Feb 2021

Oláhová Monika, Peter Bradley, Szilagyi Zsolt, Diaz-Maldonado Hector, Singh Meenakshi, Sommerville Ewen W, Blakely Emma L, Collier Jack J, Hoberg Emily, Stránecký Viktor, Hartmannová Hana, Bleyer Anthony J, McBride Kim L, Bowden Sasigarn A, Korandová Zuzana, Pecinová Alena, Ropers Hans-Hilger, Kahrizi Kimia, Najmabadi Hossein, Tarnopolsky Mark A, Brady Lauren I, Weaver K Nicole, Prada Carlos E, Õunap Katrin, Wojcik Monica H, Pajusalu Sander, Syeda Safoora B, Pais Lynn, Estrella Elicia A, Bruels Christine C, Kunkel Louis M, Kang Peter B, Bonnen Penelope E, Mráček Tomáš, Kmoch Stanislav, Gorman Gráinne S, Falkenberg Maria, Gustafsson Claes M, Taylor Robert W

Abstract excerpt

While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here, we characterise the clinical and molecular nature of POLRMT variants in eight individuals from seven unrelated families. Patients present with global developmental...

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Identifiers

PMID: 33602924
DOI: 10.1038/s41467-021-21279-0
PMCID: PMC7893070

Genes

POLRMT

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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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