Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic
architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked …

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 …

Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular …

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 Alström syndrome (ALMS;# 203800) is an ultrarare monogenic recessive
disease. This syndrome is associated with variants in the ALMS1 gene, which encodes a …

Inherited myopathies are a group of disease, which, although distinct from a genetic and
prognostic point of view, can lead to non-specific clinical pictures due to phenotypic overlap …

Next generation sequencing (NGS) has allowed the titin gene (TTN) to be identified as a
major contributor to neuromuscular disorders, with high clinical heterogeneity. The …

Whereas truncating variants of the giant protein Titin (TTNtv) are the main cause of familial
dilated cardiomyopathy (DCM), recently Filamin C truncating variants (FLNCtv) were …

The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for
the components of the contractile machinery which plays a crucial role in muscle disorders …

Allelic heterogeneity (AH) has been noted in truncational TTN–associated (TTNtv-
associated) dilated cardiomyopathy (DCM); ie, mutations affecting A-band–encoding exons …