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 limb-girdle muscular dystrophy (LGMD) (3 individuals).

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 With Focal Depletion Of Mitochondria. Among its related pathways are Glycerophospholipid biosynthesis and One-carbon metabolism and related pathways.

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 a suitable model to further study the pathomechanism of cardiac defects in CHKB patients.

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 ADP. This step commits choline to the enzymatic pathway for biosynthesis of phosphatidylcholine (Ishidate, 1997; Aoyama et al., 2000).

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 autistic features/behavioral problems (PMID 26067811).

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 narcolepsy., and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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，肌电图提示肌肉受累，病理标志是在肌肉活检的肌纤维外周发现增大的线粒体，呈"巨锥"形，因此该病也 ...

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 disease is phosphatidylcholine level significantly altered.

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 muscular dystrophy, which has a characteristic histopathological pattern showing peripheral megamitochondria distribution, which has become the guide for histological diagnosis.