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Titel:

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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:
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 Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families.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 encephalopathy, to milder movement disorders. In total nine individual pathogenic variants...     »
Zeitschriftentitel:
Hum Mutat
Jahr:
2021
Band / Volume:
42
Heft / Issue:
3
Seitenangaben Beitrag:
310-319
Volltext / DOI:
doi:10.1002/humu.24160
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33348459
Print-ISSN:
1059-7794
TUM Einrichtung:
Institut für Humangenetik
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