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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Veröffentlicht in:	Internal Medicine 2022/02/15, Vol.61(4), pp.547-552
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Atrophy Biopsy Case Report Case reports DNA, Mitochondrial - genetics epilepsies Epilepsy Female Fibers Humans Inclusion bodies Internal medicine Intranuclear Inclusion Bodies intranuclear inclusions MERRF Syndrome MERRF Syndrome - diagnosis MERRF Syndrome - genetics Mitochondria mitochondrial diseases Mutation myoclonic Optic Atrophy peripheral neuropathies Peripheral neuropathy
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