Article
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Journal of medical genetics - 1 Apr 1996
Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J
Abstract excerpt
Spinal muscular atrophy (SMA) is characterised by degeneration of anterior horn cells of the spinal cord and represents the second most common, lethal, autosomal recessive disorder after cystic fibrosis. Based on the criteria of the Internatinal SMA Consortium, childhood SMAs are classified into...
Topics
- Adult
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cyclic AMP Response Element-Binding Protein
- Female
- Genotype
- Humans
- Male
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- RNA-Binding Proteins
- SMN Complex Proteins
- Spinal Muscular Atrophies of Childhood