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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.
Changes in the CAMTA1 gene were identified in a UDN participant with progressive muscle weakness and wasting (skeletal muscle atrophy, muscular dystrophy) (read full description).
Oct 18, 2022
Calmodulin binding transcription activator 1
The CAMTA1 gene encodes a calcium-responsive transcriptional regulator that is highly expressed in the cerebral cortex and cerebellum (Jacobs et al., 2021).
Changes in this gene were 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!