Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B.
Savarese M, et al.
J Neuromuscul Dis. 2020;7(2):153-166. doi: 10.3233/JND-190423.
J Neuromuscul Dis. 2020.
PMID: 32039858
Free article.
BACKGROUND: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin gene (TTN) are detected frequently in any individual. ...
BACKGROUND: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because …