Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
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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