Clinical utility gene card for: malignant hyperthermia

Eur J Hum Genet. 2011 Jun;19(6). doi: 10.1038/ejhg.2010.248. Epub 2011 Jan 19.

Authors

Henry Rosenberg¹, Henrik Rueffert

Affiliation

¹ Department of Medical Education and Clinical Research, Saint Barnabas Medical Center, Livingston, NJ 07024, USA. hrosenberg@sbhcs.com

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Age Factors
Biopsy
Calcium Channels / genetics*
Calcium Channels, L-Type
Dantrolene / administration & dosage
Diagnosis, Differential
Gene Frequency
Humans
Incidence
Malignant Hyperthermia / diagnosis*
Malignant Hyperthermia / drug therapy
Malignant Hyperthermia / epidemiology
Malignant Hyperthermia / genetics*
Mutation*
Myopathies, Structural, Congenital / diagnosis*
Myopathies, Structural, Congenital / genetics
Neuroleptic Malignant Syndrome / diagnosis*
Neuroleptic Malignant Syndrome / genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Predictive Value of Tests
Restriction Mapping
Risk Factors
Ryanodine Receptor Calcium Release Channel / genetics*
Sequence Analysis, DNA

Substances

CACNA1S protein, human
Calcium Channels
Calcium Channels, L-Type
Ryanodine Receptor Calcium Release Channel
Dantrolene