2021年3月12日 · Megaconial congenital muscular dystrophy (CMD) (OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed...

CHKB-related CMD. Mutations in choline kinase B, which is involved in phosphatidylcholine biosynthesis, cause a congenital onset muscular dystrophy with large appearing mitochondria …

2024年2月1日 · CHKB-DT levels were remarkably decreased in patients with DCM and mice with transverse aortic constriction–induced heart failure. Heterozygous knockout of CHKB-DT in …

Click on the name of a clinical subtype to access the details page. New subtypes of congenital muscle disease are being discovered and described all the time. If you don’t see your subtype …

2024年6月6日，华中科技大学同济医学院附属同济医院心血管内科陈琛/汪道文教授团队在Circulation杂志在线发表题为“LncRNA DCRT protects against dilated cardiomyopathy by …

Congenital myasthenic syndromes (CMS) are heterogeneous inherited disorders of neuromuscular transmission characterized by fatigable weakness of the skeletal muscle with …

肉毒碱棕榈酰转移酶Cpt1b突变心肌细胞中的 α-酮戊二酸 （αKG）积累可激活组蛋白赖氨酸去甲基酶KDM5。 活化的KDM5降低 H3K4me3水平并将心肌细胞转化到不太成熟的状态，从而促进 …

Establishing a molecular diagnosis for patients with a neuromuscular disorder. Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive …

The Continuous Machinery Survey (CMS) System is to aim to grasp the general condition of the whole machinery and equipment by opening up a part of the machinery and equipment …

Information for children up to the age of 19 who need health care or a local dental provider. Information for people who need health insurance and want to apply or enroll in the …