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

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 spontaneous h...

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Detalles Bibliográficos
Autores principales: Grigalionienė, Kristina, Burnytė, Birutė, Balkelienė, Danutė, Ambrozaitytė, Laima, Utkus, Algirdas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834195/
https://www.ncbi.nlm.nih.gov/pubmed/36181358
http://dx.doi.org/10.1002/mgg3.2059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834195/
https://www.ncbi.nlm.nih.gov/pubmed/36181358
http://dx.doi.org/10.1002/mgg3.2059

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