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

Grigalioniene, Kristina; Burnyte, Birute; Balkeliene, Danute; Ambrozaityte, Laima; Utkus, Algirdas

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

Grigalioniene, Kristina; Burnyte, Birute; Balkeliene, Danute; Ambrozaityte, Laima; Utkus, Algirdas.

Afiliación

Grigalioniene K; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Balkeliene D; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Utkus A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

Mol Genet Genomic Med ; 11(1): e2059, 2023 01.

Article en En | MEDLINE | ID: mdl-36181358

Asunto(s)

Síndrome de Kearns-Sayre; Oftalmoplejía Externa Progresiva Crónica; Masculino; Humanos; Adulto Joven; Adulto; Síndrome de Kearns-Sayre/genética; Eliminación de Gen; Oftalmoplejía Externa Progresiva Crónica/genética; ADN Mitocondrial/genética; Reacción en Cadena de la Polimerasa Multiplex

Palabras clave

KSS; Kearns-Sayre syndrome; mitochondrial disorder; single large-scale mitochondrial DNA deletion syndromes

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Kearns-Sayre / Oftalmoplejía Externa Progresiva Crónica Límite: Adult / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: Lituania

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