Obscurin variants and inherited cardiomyopathies

@inproceedings{Marston2017ObscurinVA,
  title={Obscurin variants and inherited cardiomyopathies},
  author={Steven Marston},
  booktitle={Biophysical Reviews},
  year={2017}
}
The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated… CONTINUE READING
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OBSCNmutations associated with dilated cardio

  • S cvr142 Marston
  • 2015
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