Congenital myopathy results from misregulation of a muscle Ca(2+) channel by mutant Stac3

Skeletal muscle contractions are initiated by an increase in Ca(2+) released during excitation–contraction (EC) coupling, and defects in EC coupling are associated with human myopathies. EC coupling requires communication between voltage-sensing dihydropyridine receptors (DHPRs) in transverse tubule...

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Gepubliceerd in:Proc Natl Acad Sci U S A
Hoofdauteurs: Linsley, Jeremy W., Hsu, I-Uen, Groom, Linda, Yarotskyy, Viktor, Lavorato, Manuela, Horstick, Eric J., Linsley, Drew, Wang, Wenjia, Franzini-Armstrong, Clara, Dirksen, Robert T., Kuwada, John Y.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2017
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PNAS Plus
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5240691/
https://ncbi.nlm.nih.gov/pubmed/28003463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1619238114
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