Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

Inmaculada Pagola-LorzEsther VicenteBerta IbáñezLaura TornéItsaso Elizalde-BeirasVirginia Garcia-SolaesaFermín GarcíaJosu DelfradeIvonne Jericó

Published in: Orphanet journal of rare diseases (2019)

Prevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases.

Keyphrases

electronic health record
skeletal muscle
big data
deep learning