The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

Authors:
Yarham JW; Blakely EL; Alston CL; Roberts ME; Ealing J and 4 more

Journal:
J Neurol Sci

Publication Year: 2012

DOI:
10.1016/j.jns.2012.12.003

PMCID:
PMC3560033

PMID:
23273904

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Journal Information

Full Title: J Neurol Sci

Abbreviation: J Neurol Sci

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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"Conflict of interest The authors report no conflicts of interest."

Evidence found in paper:

"This work was supported by the Wellcome Trust Centre for Mitochondrial Research (906919) and the UK NHS Specialist Commissioners which funds the “Rare Mitochondrial Disorders of Adults and Children” Diagnostic Service in Newcastle upon Tyne (http://www.mitochondrialncg.nhs.uk). We are also grateful to the funding support from a Medical Research Council (UK) Centenary Early Career Award (JWY), MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK) (G0800674) (RWT and RM) and a HEFCE/DoH Clinical Senior Lecturer Award (RM). We would also like to thank Mr Gavin Falkous for the excellent technical support."

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Last Updated: Aug 05, 2025