Associated Papers
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
Allamand V et al.
Embo Reports, 2006
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2005
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.
Ferreiro A et al.
American Journal of Human Genetics, 2002
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