Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

Nicole Monnier, Isabelle Marty, Julien Faure, Claudia Castiglioni, Claude Desnuelle, Sabrina Sacconi, Brigitte Estournet, Ana Ferreiro, Norma Romero, Annie Laquerriere, Leila Lazaro, Jean Jacques Martin, Eva Morava, Annick Rossi, Anneke Van Der Kooi, Marianne De Visser, Corien Verschuuren, Joël Lunardi

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Medicine & Life Sciences