Items Tagged ‘congenital myasthenic syndrome’
October 30, 2015
Lifetime of Seeking Rewarded with a Diagnosis
By Jeff Briggs 
Stacy Carlson was born with congenital myasthenic syndrome, and, although she received a number of opinions throughout her life, it wasn’t until age 44 that she received a definitive diagnosis. Her local physician referred Stacy to Mayo Clinic’s Andrew Engel, M.D., whose work in whole exome sequencing to identify novel muscular dystrophy mutations has been […]
Tags: center for individualized medicine, congenital myasthenic syndrome, diagnostic odyssey, DNA Testing, Dr. Andrew Engel, Dx, individualized medicine, muscular dystrophy, Precision Medicine, Stacy Carlson