Cargando…
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
OBJECTIVE: The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy ((1)H‐MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochond...
Autores principales: | Gramegna, Laura L., Evangelisti, Stefania, Di Vito, Lidia, La Morgia, Chiara, Maresca, Alessandra, Caporali, Leonardo, Amore, Giulia, Talozzi, Lia, Bianchini, Claudio, Testa, Claudia, Manners, David N., Cortesi, Irene, Valentino, Maria L., Liguori, Rocco, Carelli, Valerio, Tonon, Caterina, Lodi, Raffaele |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164862/ https://www.ncbi.nlm.nih.gov/pubmed/33951347 http://dx.doi.org/10.1002/acn3.51329 |
Ejemplares similares
-
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
por: Barone, Valentina, et al.
Publicado: (2022) -
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions
por: Caporali, Leonardo, et al.
Publicado: (2013) -
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
por: Maresca, Alessandra, et al.
Publicado: (2015) -
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions
por: La Morgia, Chiara, et al.
Publicado: (2014) -
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
por: Misic, Jelena, et al.
Publicado: (2022)