@article{4aa8974326a446e1a093f449c55403e1,
title = "Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies",
keywords = "cardiomyopathies, clinical interpretation, data sharing, skeletal muscle disorders, Titin, connectin, TTN protein, human, adult, Article, case control study, cohort analysis, conceptual framework, controlled study, disease classification, gene frequency, genetic analysis, genetic association, genetic disorder, genetic heterogeneity, genetic variability, human, major clinical study, medical school, medical society, molecular pathology, myopathy, population based case control study, population genetics, practice guideline, priority journal, quantitative analysis, standardization, TTN gene, cardiomyopathy, classification, genetics, muscle disease, Cardiomyopathies, Connectin, Humans, Muscular Diseases, Practice Guidelines as Topic, 1182 Biochemistry, cell and molecular biology",
author = "Marco Savarese and Mridul Johari and Katherine Johnson and Meharji Arumilli and Annalaura Torella and Ana T{\"o}pf and Anna Rubegni and Marius Kuhn and Teresa Giugliano and Dieter Gl{\"a}ser and Fabiana Fattori and Rachel Thompson and Sini Penttil{\"a} and Sara Lehtinen and Sara Gibertini and Alessandra Ruggieri and Marina Mora and Ales Maver and Borut Peterlin and Ami Mankodi and Hanns Lochm{\"u}ller and Santorelli, {Filippo Maria} and Benedikt Schoser and Lenka Fajkusov{\'a} and Volker Straub and Vincenzo Nigro and Peter Hackman and Bjarne Udd",
year = "2020",
doi = "10.3233/JND-190423",
language = "English",
volume = "7",
pages = "153--166",
journal = "Journal of Neuromuscular Diseases",
issn = "2214-3599",
publisher = "IOS PRESS",
number = "2",
}