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| Cardiomyopathy_Paediatric v1.41 | CHKB |
Sarah Milton gene: CHKB was added gene: CHKB was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 39465137; 34962344; 33623274; 27123443; 26067811; 25740612 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541 Review for gene: CHKB was set to GREEN Added comment: PMID 26067811, PMID 34962344, PMID 25740612, PMID 27123443, PMID 39465137 and PMID 33623274 collectively report a number of individuals with biallelic loss‑of‑function CHKB variants causing megaconial congenital muscular dystrophy, frequently presenting with early‑onset dilated cardiomyopathy together with muscle weakness, developmental delay and ichthyosis. Sources: Literature |
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