Article
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD - 1 Mar 2010
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
Abstract excerpt
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 genes. The interaction between RyR1 and DHPR proteins underlies depolarization-induced Ca(2+) release during EC...
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