Segregation of malignant hyperthermia, central core disease and chromosome 19 markers
نویسندگان
چکیده
منابع مشابه
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
Malignant hyperthermia (MH) is an autosomal dominant disorder presenting under general anaesthesia. It is occasionally associated with a myopathy, central core disease (CCD), named after its predominant histochemical characteristic. The penetration of CCD is variable, but typically affected individuals show delayed motor milestones in infancy and remain physically compromised. It was thought un...
متن کاملGenetic linkage analysis of chromosome 19 markers in malignant hyperthermia.
Previous studies have reported that malignant hyperthermia susceptibility is caused in some families by inherited variation in a gene located on the short arm of chromosome 19 near to, or identical with, the ryanodine receptor gene (RYR1); this is expressed in skeletal muscle as a calcium release channel of the sarcoplasm reticulum. In other families, a gene in this location is excluded, but th...
متن کاملCore myopathies and risk of malignant hyperthermia.
In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses to MH triggers. We describe in detail central core disease, multiminicore disease, and nemaline rod myopathy. We categorize...
متن کاملMalignant Hyperthermia
''Malignant Hypothermia'' syndrome is a rare, but dangerous occurrence, the aetiology of which is not known. Up to this date 180 cases have been reported. This syndrome i's seen generally in :male children over age of two years, and especially in adolescent males. Also those people with muscular abnormalities are more susciptable to this illnes'S. Anaesthetic agent such as halothane or muscular...
متن کاملFunctional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
BACKGROUND Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core ...
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ژورنال
عنوان ژورنال: British Journal of Anaesthesia
سال: 1999
ISSN: 0007-0912
DOI: 10.1093/bja/83.2.217