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Article

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Internal medicine (Tokyo, Japan) - 15 Feb 2022

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

Abstract excerpt

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 intranuclear inclusions. No mutations were found in the causative genes for diseases known to be related to...

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Identifiers

PMID: 34433719
DOI: 10.2169/internalmedicine.7767-21
PMCID: PMC8907771

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