Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

著者: Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten G. Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean‐Paul Leroy, Norma B. Romero, Jean‐Jacques Martin, Francesco Muntoni, Thomas Voit, B. Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney - The American Journal of Human Genetics 2002 被引用: 363