Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutations of the VARS2 gene encoding the mitochondrial v...

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Detalles Bibliográficos
Autores principales: Kušíková, Katarína, Feichtinger, René Günther, Csillag, Bernhard, Kalev, Ognian Kostadinov, Weis, Serge, Duba, Hans-Christoph, Mayr, Johannes Adalbert, Weis, Denisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085550/
https://www.ncbi.nlm.nih.gov/pubmed/33937156
http://dx.doi.org/10.3389/fped.2021.660076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085550/
https://www.ncbi.nlm.nih.gov/pubmed/33937156
http://dx.doi.org/10.3389/fped.2021.660076

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