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

Author:

Ferreiro Ana,Quijano-Roy Susana,Pichereau Claire,Moghadaszadeh Behzad,Goemans Nathalie,Bönnemann Carsten,Jungbluth Heinz,Straub Volker,Villanova Marcello,Leroy Jean-Paul,Romero Norma B.,Martin Jean-Jacques,Muntoni Francesco,Voit Thomas,Estournet Brigitte,Richard Pascale,Fardeau Michel,Guicheney Pascale

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. The congenital muscular dystrophies;Banker,1994

2. Mammalian selenium-containing proteins;Behne;Annu Rev Nutr,2001

3. Maladie à multiminicores au cours d'un syndrome de la colonne raide;Ben Hamida;Rev Neurol (Paris),1987

4. Proximal muscle weakness and selenium deficiency associated with long term parenteral nutrition;Brown;Am J Clin Nutr,1986

5. Rigid spine syndrome: a muscle syndrome in search of a name;Dubowitz;Proc R Soc Med,1973

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