Congenital Muscular Dystrophies: A Brief Review
Open Access
- 31 December 2011
- journal article
- review article
- Published by Elsevier BV in Seminars in Pediatric Neurology
- Vol. 18 (4), 277-288
- https://doi.org/10.1016/j.spen.2011.10.010
Abstract
No abstract availableKeywords
This publication has 102 references indexed in Scilit:
- Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE geneEuropean Journal of Human Genetics, 2011
- Diseases of the Nuclear EnvelopeCold Spring Harbor Perspectives in Biology, 2010
- Autosomal recessive inheritance of classic Bethlem myopathyNeuromuscular Disorders, 2009
- A mutation in theSEPN1selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads toSEPN1-related myopathyHuman Mutation, 2009
- Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severityAnnals of Neurology, 2008
- Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscleProceedings of the National Academy of Sciences of the United States of America, 2008
- Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codonNucleic Acids Research, 2007
- Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeHuman Genetics, 2007
- A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathyEMBO Reports, 2006
- Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophiesNature, 2002