A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report

BACKGROUND: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 muta...

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Detalles Bibliográficos
Autores principales: Giannese, Domenico, Montano, Vincenzo, Lopriore, Piervito, Nesti, Claudia, LoGerfo, Annalisa, Caligo, Maria Adelaide, Dal Canto, Flavio, Pasquinelli, Gianandrea, Bonadio, Angelo Giovanni, Moriconi, Diego, Siciliano, Gabriele, Mancuso, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881017/
https://www.ncbi.nlm.nih.gov/pubmed/36404555
http://dx.doi.org/10.3233/JND-221526

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