| Myoclonic epilepsy with ragged-red fibers without increased lactate levels. | |
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MedLine Citation:
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PMID: 19520275 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myoclonic epilepsy associated with ragged-red fibers is one of the mitochondrial encephalomyopathies. Pathogenic mitochondrial DNA mutations have been identified in the mitochondrial transfer RNA (tRNA)(Lys) at positions 8344 and 8356. Characteristics of myoclonic epilepsy associated with ragged-red fibers include myoclonic epilepsy, generalized epilepsy, hearing loss, exercise intolerance, lactic acidosis, and ragged-red fibers. The elevated lactate level is one of the most important symptoms needed to make a diagnosis of mitochondrial encephalomyopathy. In the present case, however, myoclonic epilepsy was associated with ragged-red fibers but without increased lactate levels. Therefore, myoclonic epilepsy associated with ragged-red fibers should be suspected in a patient who has myoclonic epilepsy that is difficult to control with antiepileptic medications and who has other symptoms of mitochondrial disease, such as mental retardation, even if the patient's lactate level is normal. |
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Authors:
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Shigemi Kimura; Shiro Ozasa; Kyoko Nakamura; Keiko Nomura; Hirofumi Kosuge |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Pediatric neurology Volume: 41 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2009 Jul |
Date Detail:
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Created Date: 2009-06-12 Completed Date: 2009-08-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 46-8 Citation Subset: IM |
Affiliation:
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Department of Child Development, Kumamoto University School of Medicine, Kumamoto, Japan. kimusige@kumamoto-u.ac.jp |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Anticonvulsants / therapeutic use DNA Mutational Analysis DNA, Mitochondrial Diagnosis, Differential Epilepsies, Myoclonic / blood*, complications, diagnosis*, drug therapy Humans Lactic Acid / blood* Male Mitochondrial Encephalomyopathies / blood*, complications, diagnosis* Muscle, Skeletal / pathology Mutation Pedigree RNA, Transfer, Lys / genetics |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 0/DNA, Mitochondrial; 0/RNA, Transfer, Lys; 50-21-5/Lactic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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