2023年3月30日 · CHKB-related muscular dystrophy (CHKB-MD), reported in 47 individuals to date, comprises congenital muscular dystrophy (CMD) (44 individuals) and adolescent-onset …

2024年12月24日 · CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include Muscular Dystrophy, Congenital, Megaconial Type and Proximal Myopathy …

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...

2022年2月11日 · Using Chkb-deficient mice, our study added specificity and mechanism to help explain cardiac phenotypes observed in CHKB patients and introduce Chkb-deficient mice as …

2015年5月5日 · Choline kinases (EC 2.7.1.32), such as CHKB and CHKA (118491), catalyze phosphorylation of choline by ATP in the presence of Mg (2+), yielding phosphocholine and …

Clinical characterization of 15 patients from 14 unrelated families with megaconial type congenital muscular dystrophy caused by CHKB mutations found that 8/15 patients presented with …

2024年9月18日 · Clinical resource with information about CHKB, Megaconial type congenital muscular dystrophy, Variant between CPT1B and CHKB associated with susceptibility to …

CHKB基因缺陷导致一种新的先天性肌营养不良（congenital muscular dystrophy，CMD） ，临床表现为肌无力、以大运动和语言落后为主的全面发育迟缓，肌酶轻度升高，肌电图提示肌肉受 …

In humans and mice, inactivation of the CHKB gene (Chkb in mice) causes a recessive rostral-to-caudal muscular dystrophy. Using Chkb knockout mice, we reveal that at no stage of the …

2024年10月1日 · CHKB gene encodes choline kinase enzyme that catalyses the first step in membrane phospholipid phosphatidylcholine synthesis. Mutations in the CHKB gene lead to a …