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

• প্রধান লেখক: Cinthia Aguilera (লেখক), Anna Esteve-Garcia (লেখক), Carlos Casasnovas (লেখক), Valentina Vélez-Santamaria (লেখক), Laura Rausell (লেখক), Pablo Gargallo (লেখক), Javier Garcia-Planells (লেখক), Pedro Alía (লেখক), Núria Llecha (লেখক), Ariadna Padró-Miquel (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2023-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...