Aberrant troponin post-translational modifications with TNNT1 mutations

TNNT1 mutations are associated with congenital myopathies. Here, we aimed to investigate whether troponin T post-translational modifications would be affected by the mutations. For that, we used muscle biopsy specimens from patients with TNNT1 mutations and controls. We then defined the nature and location of troponin T post-translational modifications using LC/MS.