TY  - JOUR 
AU  - Garrido Moraga, Rocío
AU  - Serrano Lorenzo, Pablo
AU  - Esteban Amo, María J.
AU  - Bellusci, Marcello
AU  - Fuente García, Miguel Ángel de la
AU  - Arenas, Joaquín
AU  - González Quintana, Adrián
AU  - Ugalde, Cristina
AU  - Simarro Grande, María
AU  - Martín Casanueva, Miguel Ángel
PY  - 2026
SN  - 1567-7249
UR  - https://uvadoc.uva.es/handle/10324/83787
AB  - This study examines two rare compound heterozygous missense variants in the SDHA gene, c.1535G > A (p.
R512Q) and c.1753C > T (p.R585W), identified in a pediatric patient presenting with neurological manifesta-
tions, including epilepsy,...
LA  - eng
PB  - Elsevier
KW  - SDHA gene
KW  - Compound heterozygous mutations
KW  - Mitochondrial dysfunction
KW  - Neurological disorders
TI  - Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease
DO  - 10.1016/j.mito.2026.102149
ER  -