Advances in the genetics of spinal muscular atrophy in childhood
10.3760/cma.j.issn.1673-4408.2010.05.032
- VernacularTitle:儿童型脊髓性肌萎缩症遗传学研究进展
- Author:
Weiliang LIU
;
Fang LI
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy in childhood;
SMN gene
- From:
International Journal of Pediatrics
2010;37(5):540-541
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance. The main pathogenesis is homozygous loss and small intragenic mutations of the SMN1. SMN2 ,as a very identical copy of SMN1, modulates the disease severity. The functional difference between both genes is a variance of single nucleotide within the coding region, causing silent mutation obviously to decrease SMN2 transcripts. Histone deacetylase inhibitors have been shown better perspective in clinical trials.
