Article
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Human mutation - 1 May 2008
Monnier Nicole, Marty Isabelle, Faure Julien, Castiglioni Claudia, Desnuelle Claude, Sacconi Sabrina, Estournet Brigitte, Ferreiro Ana, Romero Norma, Laquerriere Annie, Lazaro Leila, Martin Jean-Jacques, Morava Eva, Rossi Annick, Van der Kooi Anneke, de Visser Marianne, Verschuuren Corien, Lunardi Joël
Abstract excerpt
Mutations of the ryanodine receptor cause dominant and recessive forms of congenital myopathies with cores. Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been recently proposed to explain potential maternal monoallelic silencing of the RYR1 gene. We investigated nine families presenting with a recessive form of the disease...
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