Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …

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 …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise …

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

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 …

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 …

Objective To describe the diagnostic utility of whole-genome sequencing and RNA studies
in boys with suspected dystrophinopathy, for whom multiplex ligation-dependent probe …

Abstract Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder
associated with variants in the kelch-like family member 40 gene (KLHL40). Common …

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 …

Mutations in the TTN gene have been reported to be responsible for a range of
neuromuscular disorders, including recessive distal myopathy and congenital myopathy …