Cuenca-Bermejo, Lorena; Pizzichini, Elisa; Goncalves, Valeria-C; Guillén-Diaz, María; Aguilar-Monino, Elena; Sánchez-Rodrigo, Consuelo; González-Cuello, Ana-María; Fernández-Villalba, Emiliano; Herrero, María-Trinidad
(MDPI, 2021-05)
We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation sequencing panel, we identified a novel hemizygous variant c.338G>A ...