Welcome

This website provides information on patients with mutations in the ACTL6B gene, including clinical data, molecular data, management and research options.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ACTL6B gene.

Choose page:

• ACTL6B autosomal recessive
• ACTL6B autosomal dominant

Clinicals who identify a patient with a mutation in ACTL6B are invited to submit clinical and molecular information to the database.

Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, p.campeau@umontreal.ca