Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

doi:10.1136/jmg.35.3.196

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Article

Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families.

Journal of medical genetics - 1 Mar 1998

Robinson R, Curran J L, Hall W J, Halsall P J, Hopkins P M, Markham A F, Stewart A D, West S P, Ellis F R

Abstract excerpt

Malignant hyperthermia (MH) is an autosomal dominant genetic condition that presents in susceptible people undergoing general anaesthesia. The clinical disorder is a major cause of anaesthetic morbidity and mortality. The UK Malignant Hyperthermia Group has performed genetic linkage analysis on 20 large, well defined malignant hyperthermia families, using hypervariable markers on chromosome 19q13.1, including the...

Topics

Chromosomes, Human, Pair 19
Female
Genetic Heterogeneity
Genetic Linkage
Genetic Predisposition to Disease
Humans
Lod Score
Male
Malignant Hyperthermia
Mutation
Pedigree
Ryanodine Receptor Calcium Release Channel
Software
United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 9541102
DOI: 10.1136/jmg.35.3.196
PMCID: PMC1051241

Genes

RYR1

Provenance

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