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The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
Aleksic D, Jankovic MG, Todorovic S, Kovacevic M, Borkovic M. Aleksic D, et al. Turk J Pediatr. 2023;65(6):1018-1024. doi: 10.24953/turkjped.2022.1082. Turk J Pediatr. 2023. PMID: 38204316 Free article. Review.
BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxidative ph …
BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongati …
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P, Velchev V, Stoyanov N, Atemin S, Todorov T, Tourtourikov I, Mitev V, Todorova A. Angelova P, et al. Am J Med Genet A. 2023 Jul;191(7):1804-1813. doi: 10.1002/ajmg.a.63205. Epub 2023 Apr 7. Am J Med Genet A. 2023. PMID: 37029485
GTPBP3 variants have been reported in patients with hypertrophic cardiomyopathy, associated with combined oxidative phosphorylation deficiency 23. These novel variants represent the probable cause of the observed clinical symptoms in the patient....
GTPBP3 variants have been reported in patients with hypertrophic cardiomyopathy, associated with combined oxidative phospho …
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphorylation deficiency-11), and the EIF2B5 gene (vanishing white matter), and homozygous mutations in the KLHL41 gene (nemaline myopa …
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphor …
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Ni M, Black LF, Pan C, Vu H, Pei J, Ko B, Cai L, Solmonson A, Yang C, Nugent KM, Grishin NV, Xing C, Roeder E, DeBerardinis RJ. Ni M, et al. J Inherit Metab Dis. 2021 Jul;44(4):949-960. doi: 10.1002/jimd.12387. Epub 2021 Apr 27. J Inherit Metab Dis. 2021. PMID: 33855712 Free PMC article.
Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the electron transport chain encoded by the mitochondrial DNA. Pathogenic EARS2 variants cause combined oxidative phosphorylation …
Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the elec …
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.
MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyop …
MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been l …
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Heidary G, et al. J Neuroophthalmol. 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076. J Neuroophthalmol. 2014. PMID: 24284555 Review.
Combined oxidative phosphorylation deficiency type 7 (COXPD7) is a rare disorder of mitochondrial metabolism that results in optic atrophy and Leigh syndrome-like disease. ...
Combined oxidative phosphorylation deficiency type 7 (COXPD7) is a rare disorder of mitochondrial metabolism tha …
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
Pena JA, Lotze T, Yang Y, Umana L, Walkiewicz M, Hunter JV, Scaglia F. Pena JA, et al. J Child Neurol. 2016 Feb;31(2):215-9. doi: 10.1177/0883073815587946. Epub 2015 Jun 9. J Child Neurol. 2016. PMID: 26060307
Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial translation have been rarely reported and are described in association with Leigh syndrome and combined oxidative phosphoryla …
Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial tr …
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium. Eaton A, et al. Am J Med Genet A. 2018 Nov;176(11):2487-2493. doi: 10.1002/ajmg.a.40516. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244537
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined oxidative phosphorylation deficiency (OMIM 614932). The latter has been described in m …
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss ( …