Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions-Reference-Cited by-同舟云学术

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

Published:2021 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Kawazoe Tomoya¹,Tobisawa Shinsuke¹,Sugaya Keizo¹,Uruha Akinori¹,Miyamoto Kazuhito¹,Komori Takashi²,Goto Yu-ichi³,Nishino Ichizo⁴,Yoshihashi Hiroshi⁵,Mizuguchi Takeshi⁶,Matsumoto Naomichi⁶,Egawa Naohiro⁷,Kawata Akihiro¹,Isozaki Eiji¹

Affiliation:

1. Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan

2. Department of Laboratory Medicine and Pathology (Neuropathology), TMNH, Japan

3. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan

4. Medical Genome Center, NCNP, Japan

5. Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Japan

6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

7. Department of Neurology, Kyoto University Graduate School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7767-21/_pdf

Reference18 articles.

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2. 2. Manfredi G, Schon EA, Bonilla E, Moraes CT, Shanske S, DiMauro S. Identification of a mutation in the mitochondrial tRNA^Cys gene associated with mitochondrial encephalopathy. Hum Mutat 7: 158-163, 1996.

3. 3. Santorelli FM, Siciliano G, Casali C, et al. Mitochondrial tRNA^Cys gene mutation (A5814G): a second family with mitochondrial encephalopathy. Neuromuscul Disord 7: 156-159, 1997.

4. 4. Karadimas C, Tanji K, Geremek M, et al. A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy. J Child Neurol 16: 531-533, 2001.

5. 5. Scuderi C, Borgione E, Musumeci S, et al. Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA^Cys gene. Neuromuscul Disord 17: 258-261, 2007.

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