FXN gene methylation determines carrier status in Friedreich ataxia

BACKGROUND: Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat (GAA-TRE) in intron 1 of the FXN gene. Some patients are compound heterozygous for the GAA-TRE and another FXN pathogenic variant. Detection of the GAA-TRE in the heterozygous state, occasiona...

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Detalles Bibliográficos
Autores principales: Lam, Christina, Gilliam, Kaitlyn M, Rodden, Layne N, Schadt, Kimberly A, Lynch, David R, Bidichandani, Sanjay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423546/
https://www.ncbi.nlm.nih.gov/pubmed/36635061
http://dx.doi.org/10.1136/jmg-2022-108742