Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)

Human patients with myoclonic epilepsy with ragged-red fibers (MERRF) suffer from regionalized pathology caused by a mutation in the mitochondrial DNA (m.8344A→G). In MERRF-syndrome brain and skeletal muscles are predominantly affected, despite mtDNA being present in any tissue. In the past such tis...

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Detalles Bibliográficos
Autores principales: Brinckmann, Anja, Weiss, Claudia, Wilbert, Friederike, von Moers, Arpad, Zwirner, Angelika, Stoltenburg-Didinger, Gisela, Wilichowski, Ekkehard, Schuelke, Markus
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958123/
https://www.ncbi.nlm.nih.gov/pubmed/20976001
http://dx.doi.org/10.1371/journal.pone.0013513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958123/
https://www.ncbi.nlm.nih.gov/pubmed/20976001
http://dx.doi.org/10.1371/journal.pone.0013513

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