Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Ardissone A, Ferrera G, Lamperti C, Tiranti V, Ghezzi D, Moroni I, Lamantea E.
Ardissone A, et al.
Eur J Neurol. 2023 Jul;30(7):2079-2091. doi: 10.1111/ene.15814. Epub 2023 Apr 25.
Eur J Neurol. 2023.
PMID: 37038312
Free article.
Review.
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, represent unfavorable prognostic factors. Phenotypes related to single large scale mtDNA deletions appear to be very frequent in the pediatric po …
Deep gray matter involvement, early disease onset, and specific phenotypes, such as Pearson syndrome and Leigh syndrome, repre …