The crucial role of titin in fetal development: recurrent miscarriages and bone, heart, and muscle anomalies characterize the severe end of titinopathies spectrum

Abstract excerpt

<h4>Background</h4> Titin truncating variants (TTNtv) have been associated with several forms of myopathies and/or cardiomyopathies. In homozygosity or in compound heterozygosity they cause a wide spectrum of recessive phenotypes with a congenital or childhood onset. Most recessive phenotypes showing a congenital or childhood onset have been described in subjects carrying biallelic TTNtv in specific exons. However...

Topics

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• Alternative Splicing
• Connectin
• Disease Models, Animal
• Genetic Association Studies
• Genetics, Population
• Inheritance Patterns
• Protein Isoforms
• Structure-Activity Relationship

Identifiers and source

Literature Corpus work

7d2e7555-463e-5eb8-9c61-c7eda1858b90

DOI

10.1101/2022.10.28.22281590