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- Tomoya Kawazoe, Shinsuke Tobisawa, Keizo Sugaya, Akinori Uruha, Kazuhito Miyamoto, Takashi Komori, Yu-Ichi Goto, Ichizo Nishino, Hiroshi Yoshihashi, Takeshi Mizuguchi, Naomichi Matsumoto, Naohiro Egawa, Akihiro Kawata, and Eiji Isozaki.
- Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan.
- Intern. Med. 2022 Feb 15; 61 (4): 547-552.
AbstractWe 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 intranuclear inclusions; however, a novel variant in MT-TC was found. The association between intranuclear inclusions and this newly identified MERRF-associated variant is unclear; however, the rare complication of intranuclear inclusions in a patient with typical MERRF symptoms should be noted for future studies.
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