Lamont P J, Dubowitz V, Landon D N, Davis M, Morgan-Hughes J A
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Neuromuscul Disord. 1998 Aug;8(6):385-91. doi: 10.1016/s0960-8966(98)00043-1.
The follow-up of a patient with central core disease (CCD) over 50 years showed that although initially the condition was moderately non-progressive, progression of a significant degree did eventually occur. Histopathological and electron microscopic data were available from muscle biopsies carried out at the ages of 19 and 55 years, and show a marked predominance of type 1 fibres with central cores in most fibres at both ages. The four mutations within the RYR1 gene described in association with CCD and three of the more common malignant hyperthermia-associated mutations within RYR1 were not present.
对一名患有中央轴空病（CCD）的患者进行的50多年随访显示，尽管最初病情进展较为缓慢，但最终还是出现了显著进展。有患者19岁和55岁时进行肌肉活检的组织病理学和电子显微镜数据，结果显示两个年龄阶段大多数纤维中1型纤维显著占优，且伴有中央轴空。与CCD相关的RYR1基因中的四个突变以及RYR1中三个较常见的恶性高热相关突变均未出现。
