Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024591 (
malignant hyperthermia
)
2,353
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The muscular dystrophies are inherited myogenic disorders characterized by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne/Becker; limb-girdle; Fukuyama type congenital muscular dystrophy; Emery-Dreifus; facioscapulohumeral; oculopharyngeal;
myotonic dystrophy
, et al. Muscular dystrophies are susceptible to perioperative respiratory, cardiac and other complications, such as rhabdomyolysis. Halogenated inhalational anesthetic agents have been implicated as a cause of acute rhabdomyolysis that resembles
malignant hyperthermia
. Depolarizing neuromuscular blocking drugs that cause rhabdomyolysis are contraindicated in these patients. Recommendations are proposed for the safe anesthetic management of these patients.
...
PMID:[Anesthesia preoperative preparation of muscular dystrophy]. 2085 62
Ca
V
1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known Ca
V
1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of Ca
V
1.1 in this tissue. To date, four types of muscle diseases are known that can be linked to mutations in the CACNA1S gene or to splicing defects. These are hypo- and normokalemic periodic paralysis,
malignant hyperthermia
susceptibility, Ca
V
1.1-related myopathies, and
myotonic dystrophy
type 1. In addition, the Ca
V
1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca
V
1.1-associated protein STAC3. Here, we first address general considerations concerning the possible roles of Ca
V
1.1 in disease and then discuss the state of the art regarding the pathophysiology of the Ca
V
1.1-related skeletal muscle diseases with an emphasis on molecular disease mechanisms.
...
PMID:Skeletal muscle Ca
V
1.1 channelopathies. 3222 17
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