A Case of Exon 7 and 8 Deletion of Survival Motor Neuron Gene in Spinal Muscular Atrophy / 대한소아신경학회지
Journal of the Korean Child Neurology Society
; (4): 163-167, 2003.
Article
em Ko
| WPRIM
| ID: wpr-99558
Biblioteca responsável:
WPRO
ABSTRACT
Spinal muscular atrophy(SMA) is a genetic disorder of the motor neurons that cause muscular weakness and muscular atrophy due to anterior horn cell degeneration. Classic spinal muscular atrophy patient is caused by mutation in the chromosome 5(q11.2-q13.3), and the majority of the patient shows homozygous deletion of the telomeric survival motor neuron(SMN) gene in the chromosome 5. Deletion of exon 7 and 8 of the SMN gene and deletion of exon 4 and 5 of the neuronal apoptosis inhibitory protein(NAIP) are typically observed in SMA patients. The SMN protein plays a role in an essential cell metabolism process, the splicing of pre mRNA in the spliceosomes. We report a 7 month old male with SMA. He showed rapidly aggrdvatial muscular weakness and died at 7 months. His DNA analysis proved deletion of exon 7 and 8 of the telomeric copy of the SMN gene.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Cromossomos Humanos Par 5
/
DNA
/
Atrofia Muscular Espinal
/
Precursores de RNA
/
Atrofia Muscular
/
Éxons
/
Spliceossomos
/
Apoptose
/
Debilidade Muscular
/
Metabolismo
Limite:
Humans
/
Infant
/
Male
Idioma:
Ko
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
2003
Tipo de documento:
Article