An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.

Chiara GemelliMonica TraversoLucia TrevisanSabrina FabbriElena ScarsiBarbara CarliniValeria PradaTiziana MonginiLucia RuggieroSerena PatroneSalvatore GalloneRosa IodiceLivia PisciottaFederico ZaraPaola OrigoneEugenia RotaCarlo MinettiClaudio BrunoAngelo SchenonePaola MandichChiara FiorilloMarina Grandis

Published in: Muscle & nerve (2021)

We have described our diagnostic workflow for isolated hyperCKemia, which is based on electrodiagnostic data, biochemical screening, and first-line genetic investigations, followed by successive targeted sequencing panels. Both clinical signs and electromyographic abnormalities are associated with increased diagnostic yields.

Keyphrases

electronic health record
single cell
cancer therapy
big data
copy number
drug delivery
machine learning