Zhang Y, Chen H S, Khanna V K, De Leon S, Phillips M S, Schappert K, Britt B A, Browell A K, MacLennan D H
Banting and Best Department of Medical Research, University of Toronto, Charles H. Best Institute, Ontario, Canada.
Nat Genet. 1993 Sep;5(1):46-50. doi: 10.1038/ng0993-46.
Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hyperthermia (MH) has been identified. Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. The only amino acid substitution found was an Arg2434His mutation, resulting from the substitution of A for G7301. This mutation was linked to CCD with a lod score of 4.8 at a recombinant fraction of 0.0 in 16 informative meioses in a 130 member family, suggesting a causal relationship to CCD.
中央轴空病（CCD）是一种形态学上独特的常染色体显性遗传性肌病，临床特征多样。已确定其与恶性高热（MH）密切相关。由于MH和CCD基因与骨骼肌兰尼碱受体（RYR1）基因相关联，因此利用cDNA序列分析在一名CCD患者中寻找RYR1的致病突变。发现的唯一氨基酸替代是Arg2434His突变，由G7301的A替代所致。在一个130人的家族中，该突变在16个信息性减数分裂中与CCD连锁，重组率为0.0，连锁值为4.8，提示与CCD存在因果关系。
