Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders

. 2019 Dec ; 66 (12) : e28007. [epub] 20190918

Jazyk angličtina Země Spojené státy americké Médium print-electronic

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Perzistentní odkaz   https://www.medvik.cz/link/pmid31535449
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Tesarova M, Vondrackova A, Stufkova H, et al. Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatr Blood Cancer. 2019;66(4):e27591.

Finsterer J. The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed. Pediatr Blood Cancer. 2019:e27945.

Witters P, Saada A, Honzik T, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018;20(4):444-451.

Pitceathly RD, Taanman JW, Rahman S, et al. COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood. JAMA Neurol. 2013;70(12):1556-1561.

Cao M, Dona M, Valentino ML, et al. Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations. Neurogenetics. 2016;17(1):65-70.

Burrage LC, Tang S, Wang J, et al. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab. 2014;113(3):207-212.

Blakely EL, He L, Taylor RW, et al. Mitochondrial DNA deletion in “identical” twin brothers. J Med Genet. 2004;41(2):e19.

Kopinski PK, Janssen KA, Schaefer PM, et al. Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy. Proc Natl Acad Sci USA. 2019;116:16028-16035.

Rocha MC, Rosa HS, Grady JP, et al. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Ann Neurol. 2018;83(1):115-130.

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