A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

BACKGROUND: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales: Obara-Moszynska, Monika, Maceluch, Jaroslaw, Bobkowski, Waldemar, Baszko, Artur, Jaremba, Oskar, Krawczynski, Maciej R, Niedziela, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599412/
https://www.ncbi.nlm.nih.gov/pubmed/23421922
http://dx.doi.org/10.1186/1471-2431-13-27

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