Source:http://linkedlifedata.com/resource/pubmed/id/11575529
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2001-9-28
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pubmed:abstractText |
Malignant hyperthermia (MH) is a disorder of skeletal muscle manifested as a life-threatening hypermetabolic crisis in susceptible individuals after exposure to inhalational anesthetics and depolarizing muscle relaxants. Mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) are considered a common cause of the disorder, and, to date, more than 20 RYR1 mutations have been reported in European and Canadian families. Some studies suggest that differences may exist in the frequencies and distribution of mutations in the RYR1 gene between European and North American MH families the frequency and distribution of mutations in the RYR1 gene.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0003-3022
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
594-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11575529-Genetic Linkage,
pubmed-meshheading:11575529-Genotype,
pubmed-meshheading:11575529-Humans,
pubmed-meshheading:11575529-Malignant Hyperthermia,
pubmed-meshheading:11575529-Mutation,
pubmed-meshheading:11575529-North America,
pubmed-meshheading:11575529-Phenotype,
pubmed-meshheading:11575529-Ryanodine Receptor Calcium Release Channel
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pubmed:year |
2001
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pubmed:articleTitle |
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
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pubmed:affiliation |
Barrow Neurological Institute, Phoenix, Arizona, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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