Article
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Molecular genetics and metabolism - 1 Dec 2019
Peralta Susana, González-Quintana Adrián, Ybarra Marta, Delmiro Aitor, Pérez-Pérez Rafael, Docampo Jorge, Arenas Joaquín, Blázquez Alberto, Ugalde Cristina, Martín Miguel A
Abstract excerpt
Lethal neonatal encephalopathies are heterogeneous congenital disorders that can be caused by mitochondrial dysfunction. Biallelic large deletions in the contiguous ATAD3B and ATAD3A genes, encoding mitochondrial inner membrane ATPases of unknown function, as well as compound heterozygous nonsense and missense mutations in the ATAD3A gene have been recently associated with fatal neonatal cerebellar hypoplasia. In...
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