Voltage-gated ion channels and hereditary disease
F Lehmann-Horn, K Jurkat-Rott - Physiological reviews, 1999 - journals.physiology.org
By the introduction of technological advancement in methods of structural analysis,
electronics, and recombinant DNA techniques, research in physiology has become …
electronics, and recombinant DNA techniques, research in physiology has become …
Mutations in RYR1 in malignant hyperthermia and central core disease
R Robinson, D Carpenter, MA Shaw, J Halsall… - Human …, 2006 - Wiley Online Library
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is
fundamental to the process of excitation–contraction coupling and skeletal muscle calcium …
fundamental to the process of excitation–contraction coupling and skeletal muscle calcium …
The sarcoplasmic reticulum Ca2+ channel/ryanodine receptor: modulation by endogenous effectors, drugs and disease states
R Zucchi, S Ronca-Testoni - Pharmacological reviews, 1997 - ASPET
The ryanodine receptor (RyR) c corresponds to the sarcoplasmic reticulum (SR) Ca2+
channel (Inui et al., 1987; Imagawa et al., 1987). Its structure and function have been …
channel (Inui et al., 1987; Imagawa et al., 1987). Its structure and function have been …
Malignant-hyperthermia susceptibility is associated with a mutation of the a1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium …
N Monnier, V Procaccio, P Stieglitz, J Lunardi - The American Journal of …, 1997 - cell.com
Malignant hyperthermia susceptibility (MHS) is characterized by genetic heterogeneity.
However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine …
However, except for the MHS1 locus, which corresponds to the skeletal muscle ryanodine …
Ryanodine receptor mutations in malignant hyperthermia and central core disease
TV McCarthy, KA Quane, PJ Lynch - Human mutation, 2000 - Wiley Online Library
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that
manifests in response to anesthetic triggering agents. Central core disease (CCD) is a …
manifests in response to anesthetic triggering agents. Central core disease (CCD) is a …
Genetics and pathogenesis of malignant hyperthermia
K Jurkat‐Rott, T McCarthy… - Muscle & Nerve: Official …, 2000 - Wiley Online Library
Malignant hyperthermia (MH) is a potentially life‐threatening event in response to anesthetic
triggering agents, with symptoms of sustained uncontrolled skeletal muscle calcium …
triggering agents, with symptoms of sustained uncontrolled skeletal muscle calcium …
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH group: results of testing patients surviving fulminant MH and …
H Ørding, V Brancadoro, S Cozzolino… - Acta …, 1997 - Wiley Online Library
Background: Determination of sensitivity and specificity of the in vitro contracture test (IVCT)
for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) …
for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) …
Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects
JR Mickelson, CF Louis - Physiological Reviews, 1996 - journals.physiology.org
Malignant hyperthermia (MH) is a disorder of skeletal muscle in which certain anesthetic
agents trigger a sustained elevation in myoplasmic Ca2+ concentration that activates …
agents trigger a sustained elevation in myoplasmic Ca2+ concentration that activates …
Mutations in the β-tropomyosin (TPM2) gene–a rare cause of nemaline myopathy
K Donner, M Ollikainen, M Ridanpää, HJ Christen… - Neuromuscular …, 2002 - Elsevier
Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the
nebulin gene we have detected a number of autosomal recessive mutations. Both …
nebulin gene we have detected a number of autosomal recessive mutations. Both …
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia
A Urwyler, T Deufel, T McCarthy… - British journal of …, 2001 - academic.oup.com
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by
several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to …
several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to …