Abstract
A new entity of congenital myopathy in Japanese and Turkish children caused by autosomal recessive mutations in the gene encoding for choline kinase beta (CHKB) was recently described by Nishino et al. We describe the clinical features of three caucasian British patients with the condition, confirmed by genetic analysis. We found a spectrum of severity from severe: presenting with learning difficulty, autism, ichthyosis and early death from cardiomyopathy to a milder phenotype in a female patient who is now in her early twenties.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
