Advances in the Pathogenic Research of Female Carriers with Symptomatic Duchenne Muscular Dystrophy / 现代生物医学进展

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.

Mutation analysis of dystrophin gene and clinical evaluation of phenotypes in X-linked dilated cardiomyopathy / 中国实用内科杂志

T is the etiologic mutation in this family.Screening of female carrier state and follow-up study of the confirmed carriers are important for X-liked DCM family.