Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

The skeletal muscle ryanodine receptor plays a crucial role in excitation–contraction (EC) coupling and is implicated in various congenital myopathies. The periodic paralyses are a heterogeneous, dominantly inherited group of conditions mainly associated with mutations in the SCN4A and the CACNA1S g...

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Detalhes bibliográficos
Main Authors: Zhou, Haiyan, Lillis, Suzanne, Loy, Ryan E., Ghassemi, Farshid, Rose, Michael R., Norwood, Fiona, Mills, Kerry, Al-Sarraj, Safa, Lane, Russell J.M., Feng, Lucy, Matthews, Emma, Sewry, Caroline A., Abbs, Stephen, Buk, Stefan, Hanna, Michael, Treves, Susan, Dirksen, Robert T., Meissner, Gerhard, Muntoni, Francesco, Jungbluth, Heinz
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3136116/
https://ncbi.nlm.nih.gov/pubmed/20080402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.12.005
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