Advances in the Pathogenic Research of Female Carriers with Symptomatic Duchenne Muscular Dystrophy
10.13241/j.cnki.pmb.2017.25.046
- VernacularTitle:女性Duchenne/Becker型肌营养不良症携带者发病机理的研究进展
- Author:
Shuang ZHOU
;
Pingyuan XIE
;
Guangxiu LU
;
Ge LIN
- Keywords:
DMD/BMD;
Female carriers;
Skewed X inactivation
- From:Progress in Modern Biomedicine
2017;17(25):4986-4989
- CountryChina
- Language:Chinese
-
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.
