Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Justine GéraudKlaus DieterichJohn RenduEmmanuelle Uro CosteMurielle DobrzynskiPascale MarcorelleChristine IoosNorma Beatriz RomeroEloise BaudouJulie BrocardAnne-Cécile CovilleJulien FauréMichel KoenigRaul Juntas MoralesEmmanuelle LacèneAngéline MadelaineIsabelle MartyHenri PegeotCorinne ThezeAurore SiegfriedMireille CosseeClaude CancesPublished in: Journal of medical genetics (2020)
The clinical and anatomopathological presentations of our patients reinforce the homogeneous character of the phenotype associated with recessive TNNT1 mutations. Previous studies revealed an impact of recessive variants on the tropomyosin-binding affinity of TNT. We report in our patients a complete loss of TNT protein due to open reading frame disruption or to post-translational degradation of TNT.