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

• Autores principales: Katarína Kušíková (Autor), René Günther Feichtinger (Autor), Bernhard Csillag (Autor), Ognian Kostadinov Kalev (Autor), Serge Weis (Autor), Hans-Christoph Duba (Autor), Johannes Adalbert Mayr (Autor), Denisa Weis (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2021-04-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

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...