Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Friedreich's ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Nearly 95-98% of patients are homozygous for a 90-1...

Descripción completa

Detalles Bibliográficos
Autores principales: Rao, Vamshi K., DiDonato, Christine J., Larsen, Paul D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106966/
https://www.ncbi.nlm.nih.gov/pubmed/30159187
http://dx.doi.org/10.1155/2018/8587203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106966/
https://www.ncbi.nlm.nih.gov/pubmed/30159187
http://dx.doi.org/10.1155/2018/8587203

Ejemplares similares