Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

The introduction of next-generation sequencing technology has revealed that mutations in
the gene that encodes titin (TTN) are linked to multiple skeletal and cardiac myopathies. The …

Plasma metabolite concentrations reflect the activity of tissue metabolic pathways and their
quantitative determination may be informative about pathogenic conditions. We searched for …

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate
diagnosis and management of this important emerging disorder. Methods Using massively …

Importance Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The
interpretation of the numerous rare variants identified inTTNis a difficult challenge given its …

Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire
titin (TTN) coding sequence. This has resulted in the identification of a growing number of …

Background Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting
skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a …

Heterozygous (HET) truncating variant mutations in the TTN gene (TTNtvs), encoding the
giant titin protein, are the most common genetic cause of dilated cardiomyopathy (DCM) …

In recent years, increasing attention has been paid to titin (TTN) and its mutations.
Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the …

BACKGROUND: Extensive genetic screening results in the identification of thousands of
rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin …