Article
The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?
Current opinion in neurology - 1 Oct 2020
Udd Bjarne
Abstract excerpt
PURPOSE OF REVIEW: The last few years have confirmed previous assumptions of an enormous impact of the titin gene (TTN) on the occurrence of muscle disease, cardiomyopathy, or both together. The reason for this rather late understanding of its importance is because of the huge size which prevented sequencing of the whole gene by the previous Sanger technique in the individual cases. An update of the advances in...
Topics
- Connectin
- Humans
- Muscular Diseases
- Phenotype