Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

by Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce
Published 2019-08-01

Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

by Sofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, María Unceta Suarez, María Jesús Martínez-González, Filipa Borges, Liesbeth Wintjes, Antonia Kappen, Richard Rodenburg, María-Luz Couce
Published 2020-09-01