ArticleInternal medicine (Tokyo, Japan)2018
Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation.
Article in Internal medicine (Tokyo, Japan), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Clinical drivers of hospitalisation in patients with mitochondrial diseases.BMJ neurology open · 2024Article
- Exercise-induced Falls Attributed to the Variant m.8344A>G.Internal medicine (Tokyo, Japan) · 2019Article
- Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation.Internal medicine (Tokyo, Japan) · 2019Article
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6 authors at 1 institution in 1 country.
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Abstract
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is traditionally characterized by myoclonus, generalized epilepsy and ragged-red fibers. We herein report a 42-year-old man who complained of falling after starting running, symptoms resembling those of paroxysmal kinesigenic dyskinesia. He showed only slight muscle weakness of the right quadriceps femoris. Muscle pathology and a genetic analysis identified him as having MERRF with a 8344A>G mtDNA mutation. We diagnosed his symptoms as having been caused by slight quadriceps femoris muscle weakness and exercise intolerance. This case suggests that mitochondrial myopathy should be considered in cases with strong muscle symptoms for muscle weakness.
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