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Quoted phrase not found in phrase index: "Myopathy, lactic acidosis, and sideroblastic anemia 1"
Page 1
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.
Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K. Alfadhel M, et al. Neurosciences (Riyadh). 2017 Jan;22(1):4-13. doi: 10.17712/nsj.2017.1.20160542. Neurosciences (Riyadh). 2017. PMID: 28064324 Free PMC article. Review.
Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, …
Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect …
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S. Shahni R, et al. Am J Med Genet A. 2013 Sep;161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918765 Free PMC article.
Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We report on a new case of myopathy, lactic acidosis and siderob …
Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination …
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
IMPORTANCE: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. ...Fifteen individuals (88%) exhibited an elevated blood lactate level acc …
IMPORTANCE: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblast …
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Metodiev MD, Assouline Z, Landrieu P, Chretien D, Bader-Meunier B, Guitton C, Munnich A, Rötig A. Metodiev MD, et al. Eur J Hum Genet. 2015 Jun;23(6):880-2. doi: 10.1038/ejhg.2014.192. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227147 Free PMC article.
A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemia, diarrhea, microcephaly and failure to thrive. Moderate muscle weakness occurred in adulthood (6-min walk distance at 26 years: 240 m, …
A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemi …