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 calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and
normokalemic periodic paralysis
, thyrotoxic periodic paralysis, and susceptibility to
malignant hyperthermia
. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease. Next-generation sequencing (NGS) using a panel targeting metabolic myopathy and myotonia genes identified a de novo heterozygous pathogenic variant c.3724A>G, p.Arg1242Gly, in exon 30 of CACNA1S. As the second report of this variant, this case may broaden the CACNA1S-related disease spectrum to include
normokalemic periodic paralysis
.
...
PMID:De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy. 2904 24
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
