23
Participants
Start Date
March 31, 2013
Primary Completion Date
March 31, 2017
Study Completion Date
March 31, 2017
Genetic Testing
Genetic testing services will be provided by the University of Chicago under the guidance of Dr. Soma Das, PhD. Services will be coordinated by Rachel Alvarez, CMDIR Associate Director. Genetic testing will include standard sequencing of the MTM1 gene followed by CGH array for deletion/duplication in cases where no pathologic variant is identified by standard sequencing.
Congenital Muscle Disease International Registry, Torrance
Valerion Therapeutics, LLC
INDUSTRY
Congenital Muscle Disease International Registr
OTHER
University of Chicago
OTHER
Boston Children's Hospital
OTHER
Cure CMD
OTHER