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Congenital Myopathies Gene Curation Expert Panel

Affiliated to Neuromuscular CDWG
Membership Documents

With the advancement of genomic technologies, many new genes have been described in patients with different types of congenital myopathies and are being included in next-generation sequencing panels by clinical laboratories.  With a growing concern for the level of certainty for those genes in respect to their gene:disease relationship, the Congenital Myopathy Expert Panel is focused on curating those genes and variants that have been associated with congenital myopathies. (Coming Soon)

Expert Panel Status - In progress

Step 1
Step 2
Define Group
In progress
Expert Panel Approval
Chairs
Ozge Ceyhan Birsoy, PhD
Carsten Bonnemann, MD
Coordinators
Please contact a coordinator if you have questions.
C. Lisa Kurtz, PhD
lisa_kurtz@med.unc.edu
Chandler Douglas, MS
chandler_douglas@med.unc.edu

Documents

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Coordinators