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...

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Bibliografski detalji

Glavni autori:	Abbas Tafakhori, Zahra Sarvestani, Ariana Kariminejad, Homa Tajsharghi, Go Hun Seo, Seung Woo Ryu, Sanaz Heydari Havadaragh
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2026-02-01
Serija:	BMC Neurology
Teme:	FDXR Mitochondrial disorder Flaccid quadriparesis Consanguinity Whole exome sequencing
Online pristup:	https://doi.org/10.1186/s12883-026-04752-5
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