Total: 1 |
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PMID (PMCID) | ||
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21905081 |
MIXED_SAMPLE | Adult |
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia. | ||
Okamoto Y, Higuchi I, Sakiyama Y, Tokunaga S, Watanabe O, Arimura K, Nakagawa M, Takashima H. Ann Neurol. 2011;70(3):486-92. |
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Five of 9 patients were initially diagnosed with other conditions, such as myasthenia gravis, polymyositis, viral myositis, and drug-induced 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. |