A MUTATION IN THE HUMAN RYANODINE RECEPTOR GENE ASSOCIATED WITH CENTRAL CORE DISEASE

被引:277
作者
ZHANG, YL
CHEN, HS
KHANNA, VK
DELEON, S
PHILLIPS, MS
SCHAPPERT, K
BRITT, BA
BROWNELL, AKW
MACLENNAN, DH
机构
[1] UNIV TORONTO,CHARLES H BEST INST,BANTING & BEST DEPT MED RES,112 COLL ST,TORONTO M5G 1L6,ONTARIO,CANADA
[2] HOSP SICK CHILDREN,CANADIAN GENET DIS NETWORK CORE SEQUENCING FACIL,TORONTO M5G 1X8,ONTARIO,CANADA
[3] UNIV TORONTO,DEPT ANESTHESIA,TORONTO M5G 2C4,ON,CANADA
[4] UNIV CALGARY,DEPT CLIN NEUROSCI,CALGARY T2N 1N4,ALBERTA,CANADA
[5] FOOTHILLS PROV GEN HOSP,CALGARY T2N 2T9,AB,CANADA
关键词
D O I
10.1038/ng0993-46
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Central core disease (CCD) is a morphologically distinct, autosomal dominant myopathy with variable clinical features. A close association with malignant hypertheria (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.
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页码:46 / 50
页数:5
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