Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

Abstract Background Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is caused by spont...

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Bibliographic Details
Main Authors: Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Kearns‐Sayre syndrome
KSS
mitochondrial disorder
single large‐scale mitochondrial DNA deletion syndromes
Online Access:https://doi.org/10.1002/mgg3.2059

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