Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

We herein report a case of myoclonic epilepsy with ragged-red fibers (MERRF) harboring a novel variant in mitochondrial cysteine transfer RNA (MT-TC). A 68-year-old woman presented with progressive myoclonic epilepsy with optic atrophy and peripheral neuropathy. A skin biopsy revealed p62-positive i...

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Detalles Bibliográficos
Autores principales: Kawazoe, Tomoya, Tobisawa, Shinsuke, Sugaya, Keizo, Uruha, Akinori, Miyamoto, Kazuhito, Komori, Takashi, Goto, Yu-ichi, Nishino, Ichizo, Yoshihashi, Hiroshi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Egawa, Naohiro, Kawata, Akihiro, Isozaki, Eiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907771/
https://www.ncbi.nlm.nih.gov/pubmed/34433719
http://dx.doi.org/10.2169/internalmedicine.7767-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907771/
https://www.ncbi.nlm.nih.gov/pubmed/34433719
http://dx.doi.org/10.2169/internalmedicine.7767-21

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