Article
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Human mutation - 1 Mar 2021
Stenton Sarah L, Piekutowska-Abramczuk Dorota, Kulterer Lea, Kopajtich Robert, Claeys Kristl G, Ciara Elżbieta, Eisen Johannes, Płoski Rafał, Pronicka Ewa, Malczyk Katarzyna, Wagner Matias, Wortmann Saskia B, Prokisch Holger
Abstract excerpt
Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile-onset...
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