Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy

Western-blot analysis of a giant protein, with specific antibodies directed against C-ter and N-Ter of the protein

Analyses of several interacting proteins by specific Western-blot and in-vitro tests.

samples previously used for western blotting will be subjected to mass spectrometry analysis

analyze muscle gene expression in patients with titinopathies in our cohort by RNAseq