Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders
Language English Country United States Media print-electronic
Document type Letter, Research Support, Non-U.S. Gov't, Comment
PubMed
31535449
DOI
10.1002/pbc.28007
Knihovny.cz E-resources
- MeSH
- Humans MeSH
- Mitochondrial Diseases * MeSH
- Anemia, Sideroblastic * MeSH
- MELAS Syndrome * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Letter MeSH
- Comment MeSH
- Research Support, Non-U.S. Gov't MeSH
See more in PubMed
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.