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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

Introduction: Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study, we established novel phenotype–genotype correlat...

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Main Authors: Ismail Gouiza, Meriem Hechmi, Abir Zioudi, Hamza Dallali, Nadia Kheriji, Majida Charif, Morgane Le Mao, Said Galai, Lilia Kraoua, Ilhem Ben Youssef-Turki, Ichraf Kraoua, Guy Lenaers, Rym Kefi
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
mitochondrial diseases
Leigh syndrome
fumaric aciduria
whole-exome sequencing
3D structural modeling
genetic diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1259826/full
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