A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

@inproceedings{Gigli2016ARO,
  title={A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies},
  author={Marta Gigli and Rene L Begay and Gaetano Morea and Sharon L. Graw and Gianfranco Sinagra and Matthew R Taylor and Henk L Granzier and Luisa Mestroni},
  booktitle={Front. Cardiovasc. Med.},
  year={2016}
}
Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN, the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular… CONTINUE READING
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