Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome
A team of investigators from Massachusetts General Hospital, a founding member of Mass General Brigham and Mass General for Children has identified-; for the first time-; the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome, which causes profound cerebrovascular, gastrointestinal and urologic impairment.