Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.10.012
Abstract: 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… read more here.
Keywords: atad3a; novel atad3a; atad3a recessive; associated fatal ... See more keywords
ATAD3A variants manifest multisystematically in the brain, nerves, eyes, heart, liver, and skin
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100569
Abstract: In a recent article, Peralta et al. reported about 4 siblings from consanguineous parents with neonatal cerebellar hypoplasia, seizures, axial hypotonia, hypertrophic cardiomyopathy, hepatomegaly, congenital cataract, and facial dysmorphism due to the novel, homozygous missense… read more here.
Keywords: heart; atad3a; hypertrophic cardiomyopathy; liver ... See more keywords