在一个已诊断出中央轴空病（CCD）的家族中，存在无中央轴空病的恶性高热易感性。
Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed.
作者信息
Islander G, Henriksson K G, Ranklev-Twetman E
机构信息
Department of Anaesthesiology, University Hospital, Lund, Sweden.
出版信息
Neuromuscul Disord. 1995 Mar;5(2):125-7. doi: 10.1016/0960-8966(94)00038-b.
Central Core Disease (CCD) is a myopathy closely linked to malignant hyperthermia (MH) susceptibility. We present a family with a girl suffering from CCD. Due to the CCD diagnosis, all available relatives were investigated for MH-susceptibility. No other family member has CCD. In vitro contracture tests revealed that several relatives are MH-susceptible. Thus our results suggest that healthy members of families with CCD could be at risk for being malignant hyperthermia susceptible.
中央轴空病（CCD）是一种与恶性高热（MH）易感性密切相关的肌病。我们报告了一个患有CCD的女孩的家庭。由于对该病例做出了CCD诊断，因此对所有在世亲属进行了MH易感性调查。没有其他家庭成员患有CCD。体外挛缩试验表明，有几名亲属具有MH易感性。因此，我们的结果提示，CCD患者家庭中的健康成员可能有患恶性高热的风险。
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