Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia

Author:

Sabella‐Jiménez Vanessa1ORCID,Otero‐Herrera Carlos1ORCID,Silvera‐Redondo Carlos2ORCID,Garavito‐Galofre Pilar2ORCID

Affiliation:

1. Genetics and Molecular Medicine Research Group Universidad del Norte Barranquilla Colombia

2. Genetics, Department of Medicine, Genetics and Molecular Medicine Research Group Universidad del Norte Barranquilla Colombia

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference48 articles.

1. Mitochondrial abnormalities in patients with primary openangle glaucoma;Abu‐Amero K. K.;Investigative Ophthalmology & Visual Science,2020

2. Cardiac involvement in Kearns‐Sayre syndrome;Barrera‐Ramirez C. F.;Revista Española de Cardiología,2005

3. Progressive external ophthalmoplegia and the Kearns‐Sayre syndrome: A clinical and molecular study of 6 cases;Barrientos A.;Medicina Clínica,1995

4. Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion

5. Long Q‐T syndrome and epilepsy in Kearns‐Sayre syndrome;Berio A.;Gazzetta Medica Italiana Archivio per le Scienze Mediche. Edizioni Minerva Medica,2010

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4. Multifaceted roles of mitochondrial dysfunction in diseases: from powerhouses to saboteurs;Archives of Pharmacal Research;2023-09-26

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