Associated Papers
Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.
Cotrina-Vinagre FJ et al.
Neurogenetics, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
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 CHKB gene variants, the first report of thirteen Iranian patients.
Zemorshidi F et al.
Neuromuscular Disorders : Nmd, 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
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
Oliveira J et al.
Journal of Human Genetics, 2015
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
A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy.
Kutluk G et al.
Annals of Indian Academy of Neurology, 0
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