Frank J P, Harati Y, Butler I J, Nelson T E, Scott C I
Ann Neurol. 1980 Jan;7(1):11-7. doi: 10.1002/ana.410070105.
In a detailed investigation of a family with musculoskeletal abnormalities observed in four generations, the proband and his mother were found to have central cores and multicores on histochemical and electron microscopic studies of biopsied muscle. A male sibling experienced a malignant hyperthermic reaction during hand surgery, and although similar reactions had not been observed in other family members, unexplained ventricular dysrhythmias did occur in the proband during surgery. The proband and his mother were subsequently shown to be susceptible to malignant hyperthermia by abnormal in vitro muscle contractures in the presence of halothane or caffeine. Physicians and dentists caring for patients with central core disease should be aware of its possible association with malignant hyperthermia. Complete evaluation of patients with central core disease should include in vitro muscle contracture studies for malignant hyperthermia since many of patients require surgery for musculoskeletal defects.
在对一个四代人中均观察到肌肉骨骼异常的家族进行的详细调查中，先证者及其母亲在活检肌肉的组织化学和电子显微镜研究中被发现有中央轴空和多核现象。一名男性同胞在手部手术期间发生了恶性高热反应，尽管在其他家庭成员中未观察到类似反应，但先证者在手术期间确实出现了原因不明的室性心律失常。随后，通过在氟烷或咖啡因存在下异常的体外肌肉挛缩，证明先证者及其母亲易患恶性高热。照料中央轴空病患者的内科医生和牙医应意识到其与恶性高热的可能关联。对中央轴空病患者的全面评估应包括针对恶性高热的体外肌肉挛缩研究，因为许多患者需要接受针对肌肉骨骼缺陷的手术。
