PhenomeGene — Human Disease Gene Website SeriesCHKB

Publications

Nishino I et al.A new congenital muscular dystrophy with mitochondrial structural abnormalities. Muscle Nerve. 1998;21(1):40-7. PMID: 9427222.

Mitsuhashi S et al.A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011;10;88(6):845-51. PMC3113344.

Sher RB et al.A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem. 2006;24;281(8):4938-48. PMID: 16371353.

Gutiérrez Ríos P et al.Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. Arch Neurol. 2012;69(5):657-61. PMID: 22782513.

Quinlivan R et al.Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord. 2013;23(7):549-56. PMID: 23692895.

Castro-Gago M et al.Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol. 2014;18(6):796-800. PMID: 24997086.

Haliloglu G et al.Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.J Inherit Metab Dis. 2015;38(6):1099-108. PMID: 26067811.

Oliveira J et al.New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. J Hum Genet. 2015;60(6):305-12. PMID: 25740612.

Cabrera-Serrano M et al.Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.Muscle Nerve. 2015;51(1):140-3. PMID: 25187204.

De Fuenmayor-Fernández De La Hoz CP et al.A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation. Muscle Nerve. 2016;54(4):806-8. PMID: 27169979.

Castro-Gago M et al.Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.Brain Dev. 2016;38(1):167-72. PMID: 26006750.

Marchet S et al.Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion. 2019; 47:24-9. PMID: 30986505.

Kutluk G et al.A rare cause of autism spectrum disorder: megaconial muscular dystrophy. Ann Indian Acad Neurol. 2020;23(5):694-6. PMID: 33623274.

Chan SH et al.Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients. Neuromuscul Disord. 2020;30(1):47-53. PMID: 31926838.

Bardhan M et al.Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.J Hum Genet. 2021;66(8):813-23. PMID: 33712684.

Yis U et al.Importance of skin changes in the differential diagnosis of congenital muscular dystrophies. Biomed Res Int. 2016;2016:3128735. doi: 10.1155/2016/3128735. PMID: 27123443.

Brady L et al.Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB. Neuromuscul Disord. 2016;26(2):160-4. PMID: 26782016.

Mitsuhashi S et al.Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.Curr Opin Neurol. 2013;26(5):536-43. PMID: 23945283.