Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis.Methods: We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patient...

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Bibliographic Details
Main Authors: Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Neurology
Subjects:
mitochondrial disease
early onset myopathy
DNA2
cardiomyopathy
velopharyngeal weakness
rhabdomyolysis
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.01049/full

Internet

https://www.frontiersin.org/article/10.3389/fneur.2019.01049/full

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