FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096094/
https://www.ncbi.nlm.nih.gov/pubmed/37046037
http://dx.doi.org/10.1007/s10072-023-06790-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096094/
https://www.ncbi.nlm.nih.gov/pubmed/37046037
http://dx.doi.org/10.1007/s10072-023-06790-0

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