Associated Papers
Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.
Gowda VK et al.
Annals of Indian Academy of Neurology, 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 secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M et al.
Journal of Human Genetics, 2021
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