219th ENMC workshop: Titinopathies – International database of TTN mutations and phenotypes

This article about the 219th ENMC workshop on myotubular/centronuclear myopathies first appeared in the Information Point newsletter Our World in 2016.

Titin infographic

The purpose of the workshop was to establish an international database of mutations, variations and their clinical presentations, to be able to determine if particular genetic variants of the gene are the cause of disease. The workshop brought together worldwide leaders in the Titin myopathy field, Titin family advocates, as well as representatives from other successfully developed groups.

219th ENMC workshop

 

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