Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern-Reference-Cited by-同舟云学术

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern

Published:2023-03-23 Issue:8 Volume:68 Page:527-532
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Restrepo-Vera Juan Luis^ORCID,Rovira-Moreno Eulàlia,Ramón Javier,Codina-Sola Marta,Llauradó Arnau,Salvadó Maria,Sánchez-Tejerina Daniel,Sotoca Javier,Martínez-Sáez Elena,Martí Ramon,García-Arumí Elena,Juntas-Morales Raul

Funder

Ministry of Economy and Competitiveness | Instituto de Salud Carlos III

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-023-01144-2.pdf

Reference26 articles.

1. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17:689–701.

2. Koopman WJH, Willems PHGM, Smeitink JAM. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132–41.

3. Nordlund P, Reichard P. Ribonucleotide reductases. Annu Rev Biochem. 2006;75:681–706.

4. Rahman S, Poulton J. Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child. 2009;94:3–5.

5. Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis. 2017;40:587–99.

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