Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers

Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In...

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Detalles Bibliográficos
Autores principales: Park, Sun Yeong, Kim, Se Hoon, Lee, Young-Mock
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626808/
https://www.ncbi.nlm.nih.gov/pubmed/29033892
http://dx.doi.org/10.3389/fneur.2017.00520

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626808/
https://www.ncbi.nlm.nih.gov/pubmed/29033892
http://dx.doi.org/10.3389/fneur.2017.00520

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