Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

BACKGROUND: Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intrag...

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Detalles Bibliográficos
Autores principales: Aguilera, Cinthia, Esteve-Garcia, Anna, Casasnovas, Carlos, Vélez-Santamaria, Valentina, Rausell, Laura, Gargallo, Pablo, Garcia-Planells, Javier, Alía, Pedro, Llecha, Núria, Padró-Miquel, Ariadna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693098/
https://www.ncbi.nlm.nih.gov/pubmed/38041144
http://dx.doi.org/10.1186/s12920-023-01743-0

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