Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference5 articles.
1. Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern;Petit;Hum Mol Genet,2003
2. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome;Moghadaszadeh;Nat Genet,2001
3. 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;Am J Hum Genet,2002
4. Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene;Ferreiro;Ann Neurol,2004
5. Autosomal dominant myopathy: missense mutation (Glu-706>Lys) in the myosin heavy chain IIa gene;Martinsson;Proc Natl Acad Sci USA,2000
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