Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases. Methods: Clinical data fr...

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Bibliographic Details
Main Authors: Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondrial diseases
MELAS
Leigh syndrome
Molecular diagnosis
Pediatrics
Mitochondrial DNA
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000276

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http://www.sciencedirect.com/science/article/pii/S2214426921000276

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