Source:http://linkedlifedata.com/resource/pubmed/id/19919814
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
2009-11-20
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pubmed:abstractText |
Malignant hyperthermia (MH) is a classically unapparent pharmacogenetic disorder of the skeletal muscles triggered by inhalational anesthetics or depolarizing muscle relaxants. The disposition to MH is inherited in an autosomal-dominant manner and is primarily due to mutations in the gene for the ryanodine receptor type 1 (RyR1). The present study intended to analyze whether mild muscular symptoms (elevation of the resting CK, cramps in the calves, slight calf hypertrophy) may be associated with susceptibility to MH and/or with histopathological changes.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0722-5091
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
409-16
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pubmed:meshHeading |
pubmed-meshheading:19919814-Adolescent,
pubmed-meshheading:19919814-Biopsy,
pubmed-meshheading:19919814-Contracture,
pubmed-meshheading:19919814-Creatine Kinase,
pubmed-meshheading:19919814-Female,
pubmed-meshheading:19919814-Genetic Predisposition to Disease,
pubmed-meshheading:19919814-Humans,
pubmed-meshheading:19919814-Male,
pubmed-meshheading:19919814-Malignant Hyperthermia,
pubmed-meshheading:19919814-Muscle, Skeletal,
pubmed-meshheading:19919814-Muscle Cramp,
pubmed-meshheading:19919814-Mutation,
pubmed-meshheading:19919814-Pedigree,
pubmed-meshheading:19919814-Ryanodine Receptor Calcium Release Channel
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pubmed:articleTitle |
Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
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pubmed:affiliation |
Department of Anesthesiology and Intensive Care Medicine, University Hospital of Leipzig, Germany. henrik.rueffert@medizin.uni-leipzig.de
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pubmed:publicationType |
Journal Article,
Case Reports
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