Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
- 30 April 2005
- journal article
- research article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 15 (4) , 299-302
- https://doi.org/10.1016/j.nmd.2004.11.004
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Desmin‐related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N geneAnnals of Neurology, 2004
- Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression patternHuman Molecular Genetics, 2003
- 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 MyopathiesAmerican Journal of Human Genetics, 2002
- Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndromeNature Genetics, 2001
- Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa geneProceedings of the National Academy of Sciences, 2000