EVIDENCE FOR LINKAGE OF THE CENTRAL CORE DISEASE LOCUS TO THE PROXIMAL LONG ARM OF HUMAN CHROMOSOME-19

被引：83

作者：

KAUSCH, K

LEHMANNHORN, F

JANKA, M

WIERINGA, B

GRIMM, T

MULLER, CR

机构：

[1] TECH UNIV MUNICH,DEPT NEUROL,W-8000 MUNICH 2,GERMANY

[2] CATHOLIC UNIV NIJMEGEN,DEPT CELL BIOL,NIJMEGEN,NETHERLANDS

来源：

GENOMICS | 1991年 / 10卷 / 03期

关键词：

D O I：

10.1016/0888-7543(91)90461-M

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic. © 1991.

引用

页码：765 / 769

页数：5

共 25 条

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