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...

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Bibliographic Details
Main Authors: Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing kei, Eric Kin Cheong Yau, Joannie Hui
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2022/4153357
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