{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T08:57:13Z","timestamp":1771664233909,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,9,8]],"date-time":"2011-09-08T00:00:00Z","timestamp":1315440000000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective:<\/jats:title><jats:p>To elucidate the relationship between mitochondrial DNA (mtDNA) alterations and a mitochondrial disease with a distinct combination of characteristic symptoms, namely episodic hyper\u2010creatine kinase (CK)\u2010emia and mild myopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>We selected 9 patients with mtDNA np8291 alteration from 586 patients suspected to have a mitochondrial disease, and assessed them clinically, pathologically, and genetically. These 9 patients had undiagnosed mitochondrial myopathy with episodic hyper\u2010CK\u2010emia, all showing similar symptoms and progression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Patients had mild muscle weakness and episodic hyper\u2010CK\u2010emia triggered by infections or drugs. Five of 9 patients were initially diagnosed with other conditions, such as myasthenia gravis, polymyositis, viral myositis, and drug\u2010induced myopathy, because these conditions were acute or subacute, and 9 patients showed the same 16 mtDNA alterations, which have been reported to be nonpathological polymorphisms. Muscle biopsy revealed ragged\u2010red fibers, highly expressed succinate dehydrogenase staining fibers, and cytochrome <jats:italic>c<\/jats:italic> oxidase\u2013deficient fibers. Because their mitochondrial sequence data was almost the same, and 9 patients live in widely separated cities in Japan, the alterations may have arisen from a single source.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation:<\/jats:title><jats:p>These findings suggest that mild myopathy with episodic hyper\u2010CK\u2010emia associated with some of the 16 mtDNA alterations or at least with their mitochondria, could be a novel mitochondrial disease. Therefore, we propose that this disease be named as \u201cmitochondrial myopathy with episodic hyper\u2010CK\u2010emia (MIMECK).\u201d These alterations could work concomitantly and probably modify the impact of medications or other environmental factors. We believe these findings provide an insight into a novel aspect of mitochondrial disease pathogenesis. ANN NEUROL 2011;70: 486\u2013492.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.22498","type":"journal-article","created":{"date-parts":[[2011,6,3]],"date-time":"2011-06-03T09:00:16Z","timestamp":1307091616000},"page":"486-492","source":"Crossref","is-referenced-by-count":7,"title":["A new mitochondria\u2010related disease showing myopathy with episodic hyper\u2010creatine 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