DISCORDANCE BETWEEN PHENOTYPE AND GENOTYPE IN MALIGNANT HYPERTHERMIA

被引：43

作者：

MACLENNAN, DH

机构：

来源：

CURRENT OPINION IN NEUROLOGY | 1995年 / 8卷 / 05期

关键词：

D O I：

10.1097/00019052-199510000-00013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Eight mutations in the ryanodine receptor gene on human chromosome 19q13.1 have been linked to malignant hyperthermia. Although 50% of malignant hyperthermia families are not linked to the ryanodine receptor gene, only single malignant hyperthermia families have been linked to alternative loci on chromosome 7q21-22 and on chromosome 3q13.1. Problems in malignant hyperthermia linkage studies may arise from the inadequacy of the caffeine halothane contracture test for phenotypic diagnosis of malignant hyperthermia.

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页码：397 / 401

页数：5

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