Abstract Background Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle, characterised by an elevated calcium release from the skeletal muscle sarcoplasmic reticulum. The dihydropyridine receptor (DHPR) plays an essential role in excitation-contraction coupling and calcium homeostasis in skeletal muscle. This study focuses on the gene CACNA1S which encodes the α1 subunit of the DHPR, in order to establish whether CACNA1S plays a major role in MH susceptibility in the UK. Methods We investigate the CACNA1S locus in detail in 50 independent MH patients, the largest study to date, to identify novel variants that may predispose to disease and also to characterise the haplotype structure across CACNA1S. Result...
"Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder of skeletal muscle ch...
Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of...
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterize...
BACKGROUND Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle,...
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle which results from anae...
Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium home...
Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in suscept...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that m...
To identify the genetic locus responsible for malignant hyperthermia susceptibility (MHS) in an Ital...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that m...
International audienceMalignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic d...
Background: Variants in RYR1 are associated with the majority of cases of malignant hyperthermia (MH...
BackgroundGaps in our understanding of genetic susceptibility to malignant hyperthermia (MH) limit t...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle whi...
Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 ...
"Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder of skeletal muscle ch...
Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of...
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterize...
BACKGROUND Malignant hyperthermia (MH) is an inherited pharmacogenetic disorder of skeletal muscle,...
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle which results from anae...
Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium home...
Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in suscept...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that m...
To identify the genetic locus responsible for malignant hyperthermia susceptibility (MHS) in an Ital...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that m...
International audienceMalignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic d...
Background: Variants in RYR1 are associated with the majority of cases of malignant hyperthermia (MH...
BackgroundGaps in our understanding of genetic susceptibility to malignant hyperthermia (MH) limit t...
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of skeletal muscle whi...
Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 ...
"Malignant hyperthermia (MH) is an autosomal dominant pharmacogenetic disorder of skeletal muscle ch...
Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of...
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterize...