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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: marty i. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
[Ryanodine receptor type 1: redox state matters].
Lunardi J, Fauré J, Marty I, Monnier N. Lunardi J, et al. Among authors: marty i. Med Sci (Paris). 2008 Nov;24(11):897-9. doi: 10.1051/medsci/20082411897. Med Sci (Paris). 2008. PMID: 19038082 Free article. French. No abstract available.
99 results