Associated Papers
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
Al Masseri Z et al.
American Journal of Medical Genetics. Part A, 2026
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Coste T et al.
Prenatal Diagnosis, 2025
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M et al.
Journal of Inherited Metabolic Disease, 2022
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