Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families
โ Scribed by Francesca Capon; Chiarina Levato; Sabrina Semprini; Antonio Pizzuti; Luciano Merlini; Giuseppe Novelli; Bruno Dallapiccola
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 249 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0148-639X
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Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. Th
## Abstract ## Objective Spinal muscular atrophy results from loss of the survival motor neuron 1 (__SMN1__) gene and malfunction of the remaining __SMN2__. We investigated whether valproic acid can elevate human __SMN__ expression in vivo. ## Methods Blood was collected from 10 spinal muscular
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
X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG), in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male