Advances in the Pathogenic Research of Female Carriers with Symptomatic Duchenne Muscular Dystrophy / 现代生物医学进展
Progress in Modern Biomedicine
; (24): 4986-4989, 2017.
Article
Dans Zh
| WPRIM
| ID: wpr-614914
Responsable en Bibliothèque :
WPRO
ABSTRACT
DMD/BMD is a X-linked recessive hereditary disease.It predominantly affects males.While female carriers do not have symptoms,due to their inactive X chromosome make it present mosaic.Recently,more and more papers reported that a clinically significant proportion of DMD/BMD female carriers have symptoms.They presented variable degrees of symptoms.But the mechanism of the pathogencity is still not clear.Most of the research considered that the dominating reason is the skewed X inactivation.It means that the predominant expression of the DMD mutant allele make the normal one have weak expression,thus no function dystrophin proteins could be generate,manifested as DMD/BMD.In this paper,we mainly summarized the relationship between skewed X inactivation and pathogenicity of the symptomatic DMD female carriers.
Texte intégral:
1
Indice:
WPRIM
Type d'étude:
Diagnostic_studies
langue:
Zh
Texte intégral:
Progress in Modern Biomedicine
Année:
2017
Type:
Article