Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with ch...

Descripción completa

Detalles Bibliográficos
Autores principales: Gloria Pang, Shir Wey, Chih Lee, Hencher Han, Ng Wing kei, Carol, Yau, Eric Kin Cheong, Hui, Joannie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9056216/
https://www.ncbi.nlm.nih.gov/pubmed/35502402
http://dx.doi.org/10.1155/2022/4153357

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9056216/
https://www.ncbi.nlm.nih.gov/pubmed/35502402
http://dx.doi.org/10.1155/2022/4153357

Ejemplares similares