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
  • Human Mutation, February 2008, Wiley
  • DOI: 10.1002/humu.20696
The author haven't finished explaining this publicationThe author haven't finished explaining this publication

The following have contributed to this page: Dr Claudia Castiglioni