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Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis

Abstract Background FDXR-related disorders (FRDs) are rare mitochondrial conditions typically presenting with progressive optic atrophy and neuropathy. We report identical twins presenting with acute-onset flaccid quadriparesis following a respiratory infection, expanding the known phenotypic spectr...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Abbas Tafakhori, Zahra Sarvestani, Ariana Kariminejad, Homa Tajsharghi, Go Hun Seo, Seung Woo Ryu, Sanaz Heydari Havadaragh
Hōputu: Artigo
Reo:Inglês
I whakaputaina: BMC 2026-02-01
Rangatū:BMC Neurology
Ngā marau:
FDXR
Mitochondrial disorder
Flaccid quadriparesis
Consanguinity
Whole exome sequencing
Urunga tuihono:https://doi.org/10.1186/s12883-026-04752-5
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