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
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
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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