Advances in the genetics of spinal muscular atrophy in childhood / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 540-541, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-387353
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
International Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
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