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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 10 with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) (read full description).
May 08, 2018
muscle, skeletal, receptor tyrosine kinase
The MUSK gene codes for a muscle-specific kinase required for neuromuscular junction formation (DeChiara et al., 1996).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!