Article
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2023
Masnada Silvia, Previtali Roberto, Erba Paola, Beretta Elena, Camporesi Anna, Chiapparini Luisa, Doneda Chiara, Iascone Maria, Sartorio Marco U A, Spaccini Luigina, Veggiotti Pierangelo, Osio Maurizio, Tonduti Davide, Moroni Isabella
Abstract excerpt
BACKGROUND AND AIMS: Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases...
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