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

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 frata...

Source: BMC Medical Genomics - December 1, 2023 Category: Genetics & Stem Cells Authors: Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina V élez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha and Ariadna Padró-Miquel Tags: Case Report Source Type: research