Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene
โ Scribed by A. Gambardella; R. Mazzei; A. Toscano; G. Annesi; A. Pasqua; F. Annesi; F. Quattrone; R. I. Oliveri; P. Valentino; F. Bono; U. Aguglia; M. Zappia; G. Vita; Dr. A. Quattrone
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 627 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes, fro
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g