Article
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
Journal of human genetics - 1 Jan 2008
Oliveira Jorge, Soares-Silva Isabel, Fokkema Ivo, Gonçalves Ana, Cabral Alexandra, Diogo Luísa, Galán Lucía, Guimarães António, Fineza Isabel, den Dunnen Johan T, Santos Rosário
Abstract excerpt
Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and congenital muscular dystrophy type 1D are overlapping clinical entities belonging to a subgroup of the congenital muscular dystrophies (CMD), collectively designated dystroglycanopathies, in which the common underlying defect is hypoglycosylation of alfa-dystroglycan. Currently,...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- DNA
- Exons
- Female
- Humans
- Molecular Sequence Data
- Muscular Dystrophies
- Mutation
- N-Acetylglucosaminyltransferases
- Nucleic Acid Conformation
- RNA Precursors