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Molecular Genetics and Metabolism Reports
(Mar 2020)
ATAD3A variants manifest multisystematically in the brain, nerves, eyes, heart, liver, and skin
Josef Finsterer,
Rahim Aliyev
Affiliations
Josef Finsterer
Neurological Department, Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria; Corresponding author at: Postfach 20, 1180 Vienna, Austria.
Rahim Aliyev
Department of Neurology and Clinical Neurophysiology, Azerbaijan State Advanced Training Institute for Doctors named after A. Aliyev, Baku, Azerbaijan
Journal volume & issue
Vol. 22
Abstract
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No abstracts available.
Keywords
Mitochondrial disorder
Pontocerebellar hypoplasia
ATAD3A
Multisystem
Cardiac involvement
Phenotype
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