Associated Papers
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Wu T et al.
Molecular Genetics & Genomic Medicine, 2023
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F et al.
Skeletal Muscle, 2022
36175989 (PubMed )
Supplement: 13395_2022_306_MOESM1_ESM.pdf
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
Castro-Gago M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Mitsuhashi S et al.
Current Opinion in Neurology, 2013
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S et al.
American Journal of Human Genetics, 2011
Select a paper to view details