Title: | 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 |
Journal : | American journal of human genetics (The), 71, 4 |
Authors: | Ferreiro A, Author ; Quijano Roy S ; Pichereau C ; Moghadaszadeh B ; Goemans N ; Bonnemann C ; Jungbluth H ; Straub V ; Villanova M ; Leroy JP ; Romero NB ; Martin JJ ; Muntoni F ; Voit T ; Estournet Mathiaud B ; Richard P ; Fardeau M ; Guicheney P |
Material Type: | Article |
Publication Date: | 2002 |
Size: | p 739 |
Languages: | English |
Keywords : | chromosome 1 ; differential diagnosis ; diseases classifications ; early onset disease ; gene identification ; genetic mutations ; histochemistry ; muscle biopsies ; rigid spine syndrome ; selenoprotein N related multiminicore disease ; selenoproteins ; skeletal muscle |
Pubmed / DOI : | DOI : 10.1086/342719 / Pubmed : 12192640 |