This website provides information on patients with mutations in the CHKB gene, including clinical data, molecular data, management, and research options.

Megaconial congenital muscular dystrophy (megaconial CMD) is a medical condition caused by recessive mutations in the CHKB gene. It is a rare genetic multisystem disorder characterised by early-onset hypotonia, progressive muscle weakness, global developmental delay, intellectual disability, signs of autism, and dilated cardiomyopathy. Early death is unfortunately not uncommon, especially related to cardiomyopathy.

This website was created to share and collect information about the clinical, management and research projects to gather more knowledge to enable the better treatment of patients with mutations in the CHKB gene.  

Sophelia HS Chan, MD, Paediatric Neurology Division, Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China, sophehs@hku.hk

Ichizo Nishino, MD, PhD, National Center of Neurology and Psychiatry; National Institute of Neuroscience, Tokyo, Japan, nishino@ncnp.go.jp

Brian HY Chung, MD, Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong; Hong Kong Genome Institute, Hong Kong, China, bhychung@hku.hk