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

• Hoofdauteurs: Cinthia Aguilera (Auteur), Anna Esteve-Garcia (Auteur), Carlos Casasnovas (Auteur), Valentina Vélez-Santamaria (Auteur), Laura Rausell (Auteur), Pablo Gargallo (Auteur), Javier Garcia-Planells (Auteur), Pedro Alía (Auteur), Núria Llecha (Auteur), Ariadna Padró-Miquel (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-12-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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 larg...