The genetic background to malignant hyperpyrexia revealed by serum creatine phosphokinase estimations in asymptomatic relatives
H. Isaacs,M. B. Barlow +1 more
Reads0
Chats0
TLDR
The serum creatine phosphokinase levels have helped to establish the genetically-determined myopathic background of malignant hyperpyrexia.Abstract:
SUMMARY The familial aspects of malignant hyperpyrexia, are discussed and a method for identifying the asymptomatic carriers of this disorder presented. The serum creatine phosphokinase levels have helped to establish the genetically-determined myopathic background of this disorder. Ninety-nine members over four generations have so far been studied and data concerning sixty-nine are presented in this paper.read more
Citations
More filters
Journal ArticleDOI
Paroxysmal autonomic instability with dystonia after brain injury.
TL;DR: Paroxysmal autonomic instability with dystonia appears to be a distinctive syndrome after brain injury that can mimic other life-threatening conditions and may lead to fewer diagnostic tests and a rational approach to management.
Book ChapterDOI
Porcine Stress Syndromes
G. Mitchell,James J. A. Heffron +1 more
TL;DR: The data presented here argue that pigs most likely to develop malignant hyperthermia and porcine stress syndrome have a “homozygote” genetic defect involving a single gene.
Journal ArticleDOI
Pitfalls in interpreting serum creatine phosphokinase activity.
TL;DR: It is hazardous to diagnose myocardial necrosis on the basis of an isolated CPK elevation in the absence of other suggestive evidence, and with the development of tissue-specific CPK isoenzymes, the clinical usefulness of this test may be enhanced.
Journal ArticleDOI
Malignant hyperthermia: an investigation of five patients
Journal ArticleDOI
The caffeine test of isolated human muscle in relation to malignant hyperthermia.
TL;DR: Pharmacological tests of isolated fibers of skeletal muscle proved to be a means of clarifying the occurrence of certain genetic defects, suggesting a recessively inherited predisposition to malignant hyperthermia which is not rare in the general population.