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Article

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

Journal of neuromuscular diseases - 1 Jan 2023

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

Abstract excerpt

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 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited...

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PMID: 36404555
DOI: 10.3233/JND-221526
PMCID: PMC9881017

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