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

Giannese, D; Montano, V; Lopriore, P; Nesti, C; LoGerfo, A; Caligo, MA; Dal Canto, F; Pasquinelli, G; Bonadio, AG; Moriconi, D; Siciliano, G; Mancuso, M

Mancuso, M (通讯作者),Univ Pisa, Dept Clin & Expt Med, Neurol Inst, Pisa, Italy.

JOURNAL OF NEUROMUSCULAR DISEASES, 2023; 10 (1): 119

Abstract

Background: Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations......

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