Items Tagged ‘muscular dystrophy’

October 30, 2015

Lifetime of Seeking Rewarded with a Diagnosis

By Jeff Briggs Jeff Briggs (@JeffreyBriggs)

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 […]

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Tags: center for individualized medicine, congenital myasthenic syndrome, diagnostic odyssey, DNA Testing, Dr. Andrew Engel, Dx, individualized medicine, muscular dystrophy, Precision Medicine, Stacy Carlson

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