作者: Werner Klingler , Henrik Rueffert , Frank Lehmann-Horn , Thierry Girard , Philip M. Hopkins
DOI: 10.1213/ANE.0B013E3181B5AE2D
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摘要: In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses MH triggers. describe detail central core disease, multiminicore nemaline rod myopathy. categorize diseases according affected proteins risk MH, is high or theoretically possible when calcium-conducting are affected.