Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients
- 1 January 2008
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (1) , 222-227
- https://doi.org/10.1016/j.ajhg.2007.09.016
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ SubunitAmerican Journal of Human Genetics, 2006
- Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium SyndromeAmerican Journal of Human Genetics, 2006
- Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutationsBrain, 2006
- Muscle channelopathies and critical points in functional and genetic studiesJournal of Clinical Investigation, 2005
- Identification of pathogenic mutations in the human rapsyn geneJournal of Human Genetics, 2003
- Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium SyndromePediatric and Developmental Pathology, 2003
- Differential Expression Patterns of Five Acetylcholine Receptor Subunit Genes in Rat Muscle During DevelopmentEuropean Journal of Neuroscience, 1995
- Molecular distinction between fetal and adult forms of muscle acetylcholine receptorNature, 1986
- The lethal multiple pterygium syndromesAmerican Journal of Medical Genetics, 1984
- Limb pterygium syndromes: A review and report of eleven patientsAmerican Journal of Medical Genetics, 1982