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 patien...

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Detalles Bibliográficos
Autores principales: González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787284/
https://www.ncbi.nlm.nih.gov/pubmed/31636600
http://dx.doi.org/10.3389/fneur.2019.01049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6787284/
https://www.ncbi.nlm.nih.gov/pubmed/31636600
http://dx.doi.org/10.3389/fneur.2019.01049

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